SNP Links for Protein (Select 1061214226) - SNP

Select item 14880470091.

rs1488047009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:75603908 (GRCh38)
4:76529092 (GRCh37)
Canonical SPDI:: NC_000004.12:75603907:A:C
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75603908A>C, NC_000004.11:g.76529092A>C, NM_003948.5:c.704T>G, NM_003948.4:c.704T>G, NM_003948.3:c.704T>G, XM_006714406.3:c.704T>G, XM_006714406.2:c.704T>G, XM_006714406.1:c.704T>G, NM_001330724.2:c.704T>G, NM_001330724.1:c.704T>G, XM_017008811.2:c.704T>G, XM_017008811.1:c.704T>G, XM_017008809.2:c.704T>G, XM_017008809.1:c.704T>G, XM_017008810.2:c.704T>G, XM_017008810.1:c.704T>G, XM_047416383.1:c.704T>G, XM_047416384.1:c.704T>G, XM_047416382.1:c.704T>G, XM_047416386.1:c.122T>G, XM_047416385.1:c.704T>G, XM_047416387.1:c.704T>G, NP_003939.1:p.Phe235Cys, XP_006714469.1:p.Phe235Cys, NP_001317653.1:p.Phe235Cys, XP_016864300.1:p.Phe235Cys, XP_016864298.1:p.Phe235Cys, XP_016864299.1:p.Phe235Cys, XP_047272339.1:p.Phe235Cys, XP_047272340.1:p.Phe235Cys, XP_047272338.1:p.Phe235Cys, XP_047272342.1:p.Phe41Cys, XP_047272341.1:p.Phe235Cys, XP_047272343.1:p.Phe235Cys

Select item 14835433162.

rs1483543316 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:75596973 (GRCh38)
4:76522157 (GRCh37)
Canonical SPDI:: NC_000004.12:75596972:A:G
Gene:: CDKL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75596973A>G, NC_000004.11:g.76522157A>G, NM_003948.5:c.1284T>C, NM_003948.4:c.1284T>C, NM_003948.3:c.1284T>C, XM_006714406.3:c.1284T>C, XM_006714406.2:c.1284T>C, XM_006714406.1:c.1284T>C, NM_001330724.2:c.1284T>C, NM_001330724.1:c.1284T>C, XM_017008811.2:c.1284T>C, XM_017008811.1:c.1284T>C, XM_017008809.2:c.1284T>C, XM_017008809.1:c.1284T>C, XM_017008810.2:c.1284T>C, XM_017008810.1:c.1284T>C, XM_047416383.1:c.1284T>C, XM_047416384.1:c.1284T>C, XM_047416382.1:c.1284T>C, XM_047416386.1:c.702T>C, XM_047416385.1:c.1284T>C

Select item 14810585193.

rs1481058519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:75598116 (GRCh38)
4:76523300 (GRCh37)
Canonical SPDI:: NC_000004.12:75598115:A:G
Gene:: CDKL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75598116A>G, NC_000004.11:g.76523300A>G, NM_003948.5:c.981T>C, NM_003948.4:c.981T>C, NM_003948.3:c.981T>C, XM_006714406.3:c.981T>C, XM_006714406.2:c.981T>C, XM_006714406.1:c.981T>C, NM_001330724.2:c.981T>C, NM_001330724.1:c.981T>C, XM_017008811.2:c.981T>C, XM_017008811.1:c.981T>C, XM_017008809.2:c.981T>C, XM_017008809.1:c.981T>C, XM_017008810.2:c.981T>C, XM_017008810.1:c.981T>C, XM_047416383.1:c.981T>C, XM_047416384.1:c.981T>C, XM_047416382.1:c.981T>C, XM_047416386.1:c.399T>C, XM_047416385.1:c.981T>C, XM_047416387.1:c.981T>C

Select item 14786757294.

rs1478675729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75591844 (GRCh38)
4:76517028 (GRCh37)
Canonical SPDI:: NC_000004.12:75591843:T:C
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75591844T>C, NC_000004.11:g.76517028T>C, XM_006714406.3:c.1502A>G, XM_006714406.2:c.1502A>G, XM_006714406.1:c.1502A>G, NM_001330724.2:c.1622A>G, NM_001330724.1:c.1622A>G, XM_017008809.2:c.1622A>G, XM_017008809.1:c.1622A>G, XM_047416383.1:c.1622A>G, XM_047416382.1:c.1622A>G, XM_047416386.1:c.1040A>G, XM_047416385.1:c.*64A>G, XP_006714469.1:p.His501Arg, NP_001317653.1:p.His541Arg, XP_016864298.1:p.His541Arg, XP_047272339.1:p.His541Arg, XP_047272338.1:p.His541Arg, XP_047272342.1:p.His347Arg

Select item 14768337075.

rs1476833707 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75605555 (GRCh38)
4:76530739 (GRCh37)
Canonical SPDI:: NC_000004.12:75605554:T:C
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75605555T>C, NC_000004.11:g.76530739T>C, NM_003948.5:c.622A>G, NM_003948.4:c.622A>G, NM_003948.3:c.622A>G, XM_006714406.3:c.622A>G, XM_006714406.2:c.622A>G, XM_006714406.1:c.622A>G, NM_001330724.2:c.622A>G, NM_001330724.1:c.622A>G, XM_017008811.2:c.622A>G, XM_017008811.1:c.622A>G, XM_017008809.2:c.622A>G, XM_017008809.1:c.622A>G, XM_017008810.2:c.622A>G, XM_017008810.1:c.622A>G, XM_047416383.1:c.622A>G, XM_047416384.1:c.622A>G, XM_047416382.1:c.622A>G, XM_047416386.1:c.40A>G, XM_047416385.1:c.622A>G, XM_047416387.1:c.622A>G, NP_003939.1:p.Ile208Val, XP_006714469.1:p.Ile208Val, NP_001317653.1:p.Ile208Val, XP_016864300.1:p.Ile208Val, XP_016864298.1:p.Ile208Val, XP_016864299.1:p.Ile208Val, XP_047272339.1:p.Ile208Val, XP_047272340.1:p.Ile208Val, XP_047272338.1:p.Ile208Val, XP_047272342.1:p.Ile14Val, XP_047272341.1:p.Ile208Val, XP_047272343.1:p.Ile208Val

Select item 14762097786.

rs1476209778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:75598106 (GRCh38)
4:76523290 (GRCh37)
Canonical SPDI:: NC_000004.12:75598105:C:T
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.75598106C>T, NC_000004.11:g.76523290C>T, NM_003948.5:c.991G>A, NM_003948.4:c.991G>A, NM_003948.3:c.991G>A, XM_006714406.3:c.991G>A, XM_006714406.2:c.991G>A, XM_006714406.1:c.991G>A, NM_001330724.2:c.991G>A, NM_001330724.1:c.991G>A, XM_017008811.2:c.991G>A, XM_017008811.1:c.991G>A, XM_017008809.2:c.991G>A, XM_017008809.1:c.991G>A, XM_017008810.2:c.991G>A, XM_017008810.1:c.991G>A, XM_047416383.1:c.991G>A, XM_047416384.1:c.991G>A, XM_047416382.1:c.991G>A, XM_047416386.1:c.409G>A, XM_047416385.1:c.991G>A, XM_047416387.1:c.991G>A, NP_003939.1:p.Val331Ile, XP_006714469.1:p.Val331Ile, NP_001317653.1:p.Val331Ile, XP_016864300.1:p.Val331Ile, XP_016864298.1:p.Val331Ile, XP_016864299.1:p.Val331Ile, XP_047272339.1:p.Val331Ile, XP_047272340.1:p.Val331Ile, XP_047272338.1:p.Val331Ile, XP_047272342.1:p.Val137Ile, XP_047272341.1:p.Val331Ile, XP_047272343.1:p.Val331Ile

Select item 14754333507.

rs1475433350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:75598130 (GRCh38)
4:76523314 (GRCh37)
Canonical SPDI:: NC_000004.12:75598129:C:T
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.75598130C>T, NC_000004.11:g.76523314C>T, NM_003948.5:c.967G>A, NM_003948.4:c.967G>A, NM_003948.3:c.967G>A, XM_006714406.3:c.967G>A, XM_006714406.2:c.967G>A, XM_006714406.1:c.967G>A, NM_001330724.2:c.967G>A, NM_001330724.1:c.967G>A, XM_017008811.2:c.967G>A, XM_017008811.1:c.967G>A, XM_017008809.2:c.967G>A, XM_017008809.1:c.967G>A, XM_017008810.2:c.967G>A, XM_017008810.1:c.967G>A, XM_047416383.1:c.967G>A, XM_047416384.1:c.967G>A, XM_047416382.1:c.967G>A, XM_047416386.1:c.385G>A, XM_047416385.1:c.967G>A, XM_047416387.1:c.967G>A, NP_003939.1:p.Glu323Lys, XP_006714469.1:p.Glu323Lys, NP_001317653.1:p.Glu323Lys, XP_016864300.1:p.Glu323Lys, XP_016864298.1:p.Glu323Lys, XP_016864299.1:p.Glu323Lys, XP_047272339.1:p.Glu323Lys, XP_047272340.1:p.Glu323Lys, XP_047272338.1:p.Glu323Lys, XP_047272342.1:p.Glu129Lys, XP_047272341.1:p.Glu323Lys, XP_047272343.1:p.Glu323Lys

Select item 14709505238.

rs1470950523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:75605618 (GRCh38)
4:76530802 (GRCh37)
Canonical SPDI:: NC_000004.12:75605617:C:T
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.75605618C>T, NC_000004.11:g.76530802C>T, NM_003948.5:c.559G>A, NM_003948.4:c.559G>A, NM_003948.3:c.559G>A, XM_006714406.3:c.559G>A, XM_006714406.2:c.559G>A, XM_006714406.1:c.559G>A, NM_001330724.2:c.559G>A, NM_001330724.1:c.559G>A, XM_017008811.2:c.559G>A, XM_017008811.1:c.559G>A, XM_017008809.2:c.559G>A, XM_017008809.1:c.559G>A, XM_017008810.2:c.559G>A, XM_017008810.1:c.559G>A, XM_047416383.1:c.559G>A, XM_047416384.1:c.559G>A, XM_047416382.1:c.559G>A, XM_047416386.1:c.-24G>A, XM_047416385.1:c.559G>A, XM_047416387.1:c.559G>A, NP_003939.1:p.Ala187Thr, XP_006714469.1:p.Ala187Thr, NP_001317653.1:p.Ala187Thr, XP_016864300.1:p.Ala187Thr, XP_016864298.1:p.Ala187Thr, XP_016864299.1:p.Ala187Thr, XP_047272339.1:p.Ala187Thr, XP_047272340.1:p.Ala187Thr, XP_047272338.1:p.Ala187Thr, XP_047272341.1:p.Ala187Thr, XP_047272343.1:p.Ala187Thr

Select item 14697442299.

rs1469744229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:75591829 (GRCh38)
4:76517013 (GRCh37)
Canonical SPDI:: NC_000004.12:75591828:G:C
Gene:: CDKL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75591829G>C, NC_000004.11:g.76517013G>C, XM_006714406.3:c.1517C>G, XM_006714406.2:c.1517C>G, XM_006714406.1:c.1517C>G, NM_001330724.2:c.1637C>G, NM_001330724.1:c.1637C>G, XM_017008809.2:c.1637C>G, XM_017008809.1:c.1637C>G, XM_047416383.1:c.1637C>G, XM_047416382.1:c.1637C>G, XM_047416386.1:c.1055C>G, XM_047416385.1:c.*79C>G, XP_006714469.1:p.Thr506Arg, NP_001317653.1:p.Thr546Arg, XP_016864298.1:p.Thr546Arg, XP_047272339.1:p.Thr546Arg, XP_047272338.1:p.Thr546Arg, XP_047272342.1:p.Thr352Arg

Select item 146854744910.

rs1468547449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:75605570 (GRCh38)
4:76530754 (GRCh37)
Canonical SPDI:: NC_000004.12:75605569:G:A
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.75605570G>A, NC_000004.11:g.76530754G>A, NM_003948.5:c.607C>T, NM_003948.4:c.607C>T, NM_003948.3:c.607C>T, XM_006714406.3:c.607C>T, XM_006714406.2:c.607C>T, XM_006714406.1:c.607C>T, NM_001330724.2:c.607C>T, NM_001330724.1:c.607C>T, XM_017008811.2:c.607C>T, XM_017008811.1:c.607C>T, XM_017008809.2:c.607C>T, XM_017008809.1:c.607C>T, XM_017008810.2:c.607C>T, XM_017008810.1:c.607C>T, XM_047416383.1:c.607C>T, XM_047416384.1:c.607C>T, XM_047416382.1:c.607C>T, XM_047416386.1:c.25C>T, XM_047416385.1:c.607C>T, XM_047416387.1:c.607C>T, NP_003939.1:p.Pro203Ser, XP_006714469.1:p.Pro203Ser, NP_001317653.1:p.Pro203Ser, XP_016864300.1:p.Pro203Ser, XP_016864298.1:p.Pro203Ser, XP_016864299.1:p.Pro203Ser, XP_047272339.1:p.Pro203Ser, XP_047272340.1:p.Pro203Ser, XP_047272338.1:p.Pro203Ser, XP_047272342.1:p.Pro9Ser, XP_047272341.1:p.Pro203Ser, XP_047272343.1:p.Pro203Ser

Select item 146847992411.

rs1468479924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:75592213 (GRCh38)
4:76517397 (GRCh37)
Canonical SPDI:: NC_000004.12:75592212:C:G
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75592213C>G, NC_000004.11:g.76517397C>G, NM_001330724.2:c.1473G>C, NM_001330724.1:c.1473G>C, XM_017008809.2:c.1473G>C, XM_017008809.1:c.1473G>C, XM_047416383.1:c.1473G>C, XM_047416382.1:c.1473G>C, XM_047416386.1:c.891G>C, NP_001317653.1:p.Arg491Ser, XP_016864298.1:p.Arg491Ser, XP_047272339.1:p.Arg491Ser, XP_047272338.1:p.Arg491Ser, XP_047272342.1:p.Arg297Ser

Select item 146534132612.

rs1465341326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:75581858 (GRCh38)
4:76507068 (GRCh37)
Canonical SPDI:: NC_000004.12:75581857:A:C
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75581858A>C, NC_000004.11:g.76507068A>C, NM_003948.5:c.1457T>G, NM_003948.4:c.1457T>G, NM_003948.3:c.1457T>G, XM_006714406.3:c.1568T>G, XM_006714406.2:c.1568T>G, XM_006714406.1:c.1568T>G, NM_001330724.2:c.1688T>G, NM_001330724.1:c.1688T>G, XM_017008809.2:c.1688T>G, XM_017008809.1:c.1688T>G, XM_017008810.2:c.1457T>G, XM_017008810.1:c.1457T>G, XM_047416383.1:c.1688T>G, XM_047416384.1:c.1457T>G, XM_047416386.1:c.1106T>G, NP_003939.1:p.Leu486Trp, XP_006714469.1:p.Leu523Trp, NP_001317653.1:p.Leu563Trp, XP_016864298.1:p.Leu563Trp, XP_016864299.1:p.Leu486Trp, XP_047272339.1:p.Leu563Trp, XP_047272340.1:p.Leu486Trp, XP_047272342.1:p.Leu369Trp

Select item 146348039413.

rs1463480394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75596291 (GRCh38)
4:76521475 (GRCh37)
Canonical SPDI:: NC_000004.12:75596290:T:C
Gene:: CDKL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75596291T>C, NC_000004.11:g.76521475T>C, NM_003948.5:c.1372A>G, NM_003948.4:c.1372A>G, NM_003948.3:c.1372A>G, XM_006714406.3:c.1372A>G, XM_006714406.2:c.1372A>G, XM_006714406.1:c.1372A>G, NM_001330724.2:c.1372A>G, NM_001330724.1:c.1372A>G, XM_017008811.2:c.1372A>G, XM_017008811.1:c.1372A>G, XM_017008809.2:c.1372A>G, XM_017008809.1:c.1372A>G, XM_017008810.2:c.1372A>G, XM_017008810.1:c.1372A>G, XM_047416383.1:c.1372A>G, XM_047416384.1:c.1372A>G, XM_047416382.1:c.1372A>G, XM_047416386.1:c.790A>G, XM_047416385.1:c.1372A>G, XM_047416387.1:c.*41A>G, NP_003939.1:p.Arg458Gly, XP_006714469.1:p.Arg458Gly, NP_001317653.1:p.Arg458Gly, XP_016864300.1:p.Arg458Gly, XP_016864298.1:p.Arg458Gly, XP_016864299.1:p.Arg458Gly, XP_047272339.1:p.Arg458Gly, XP_047272340.1:p.Arg458Gly, XP_047272338.1:p.Arg458Gly, XP_047272342.1:p.Arg264Gly, XP_047272341.1:p.Arg458Gly

Select item 146335213914.

rs1463352139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:75597055 (GRCh38)
4:76522239 (GRCh37)
Canonical SPDI:: NC_000004.12:75597054:C:T
Gene:: CDKL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.75597055C>T, NC_000004.11:g.76522239C>T, NM_003948.5:c.1202G>A, NM_003948.4:c.1202G>A, NM_003948.3:c.1202G>A, XM_006714406.3:c.1202G>A, XM_006714406.2:c.1202G>A, XM_006714406.1:c.1202G>A, NM_001330724.2:c.1202G>A, NM_001330724.1:c.1202G>A, XM_017008811.2:c.1202G>A, XM_017008811.1:c.1202G>A, XM_017008809.2:c.1202G>A, XM_017008809.1:c.1202G>A, XM_017008810.2:c.1202G>A, XM_017008810.1:c.1202G>A, XM_047416383.1:c.1202G>A, XM_047416384.1:c.1202G>A, XM_047416382.1:c.1202G>A, XM_047416386.1:c.620G>A, XM_047416385.1:c.1202G>A, NP_003939.1:p.Ser401Asn, XP_006714469.1:p.Ser401Asn, NP_001317653.1:p.Ser401Asn, XP_016864300.1:p.Ser401Asn, XP_016864298.1:p.Ser401Asn, XP_016864299.1:p.Ser401Asn, XP_047272339.1:p.Ser401Asn, XP_047272340.1:p.Ser401Asn, XP_047272338.1:p.Ser401Asn, XP_047272342.1:p.Ser207Asn, XP_047272341.1:p.Ser401Asn

Select item 146089837415.

rs1460898374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:75592267 (GRCh38)
4:76517451 (GRCh37)
Canonical SPDI:: NC_000004.12:75592266:G:C,NC_000004.12:75592266:G:T
Gene:: CDKL2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
C=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75592267G>C, NC_000004.12:g.75592267G>T, NC_000004.11:g.76517451G>C, NC_000004.11:g.76517451G>T, NM_001330724.2:c.1419C>G, NM_001330724.2:c.1419C>A, NM_001330724.1:c.1419C>G, NM_001330724.1:c.1419C>A, XM_017008809.2:c.1419C>G, XM_017008809.2:c.1419C>A, XM_017008809.1:c.1419C>G, XM_017008809.1:c.1419C>A, XM_047416383.1:c.1419C>G, XM_047416383.1:c.1419C>A, XM_047416382.1:c.1419C>G, XM_047416382.1:c.1419C>A, XM_047416386.1:c.837C>G, XM_047416386.1:c.837C>A

Select item 146019565316.

rs1460195653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:75598198 (GRCh38)
4:76523382 (GRCh37)
Canonical SPDI:: NC_000004.12:75598197:A:G
Gene:: CDKL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.75598198A>G, NC_000004.11:g.76523382A>G, NM_003948.5:c.899T>C, NM_003948.4:c.899T>C, NM_003948.3:c.899T>C, XM_006714406.3:c.899T>C, XM_006714406.2:c.899T>C, XM_006714406.1:c.899T>C, NM_001330724.2:c.899T>C, NM_001330724.1:c.899T>C, XM_017008811.2:c.899T>C, XM_017008811.1:c.899T>C, XM_017008809.2:c.899T>C, XM_017008809.1:c.899T>C, XM_017008810.2:c.899T>C, XM_017008810.1:c.899T>C, XM_047416383.1:c.899T>C, XM_047416384.1:c.899T>C, XM_047416382.1:c.899T>C, XM_047416386.1:c.317T>C, XM_047416385.1:c.899T>C, XM_047416387.1:c.899T>C, NP_003939.1:p.Leu300Pro, XP_006714469.1:p.Leu300Pro, NP_001317653.1:p.Leu300Pro, XP_016864300.1:p.Leu300Pro, XP_016864298.1:p.Leu300Pro, XP_016864299.1:p.Leu300Pro, XP_047272339.1:p.Leu300Pro, XP_047272340.1:p.Leu300Pro, XP_047272338.1:p.Leu300Pro, XP_047272342.1:p.Leu106Pro, XP_047272341.1:p.Leu300Pro, XP_047272343.1:p.Leu300Pro

Select item 145953394917.

rs1459533949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:75600341 (GRCh38)
4:76525525 (GRCh37)
Canonical SPDI:: NC_000004.12:75600340:C:A
Gene:: CDKL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.75600341C>A, NC_000004.11:g.76525525C>A, NM_003948.5:c.824G>T, NM_003948.4:c.824G>T, NM_003948.3:c.824G>T, XM_006714406.3:c.824G>T, XM_006714406.2:c.824G>T, XM_006714406.1:c.824G>T, NM_001330724.2:c.824G>T, NM_001330724.1:c.824G>T, XM_017008811.2:c.824G>T, XM_017008811.1:c.824G>T, XM_017008809.2:c.824G>T, XM_017008809.1:c.824G>T, XM_017008810.2:c.824G>T, XM_017008810.1:c.824G>T, XM_047416383.1:c.824G>T, XM_047416384.1:c.824G>T, XM_047416382.1:c.824G>T, XM_047416386.1:c.242G>T, XM_047416385.1:c.824G>T, XM_047416387.1:c.824G>T, NP_003939.1:p.Arg275Ile, XP_006714469.1:p.Arg275Ile, NP_001317653.1:p.Arg275Ile, XP_016864300.1:p.Arg275Ile, XP_016864298.1:p.Arg275Ile, XP_016864299.1:p.Arg275Ile, XP_047272339.1:p.Arg275Ile, XP_047272340.1:p.Arg275Ile, XP_047272338.1:p.Arg275Ile, XP_047272342.1:p.Arg81Ile, XP_047272341.1:p.Arg275Ile, XP_047272343.1:p.Arg275Ile

Select item 145784503218.

rs1457845032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75614447 (GRCh38)
4:76539631 (GRCh37)
Canonical SPDI:: NC_000004.12:75614446:T:C
Gene:: CDKL2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75614447T>C, NC_000004.11:g.76539631T>C, NM_003948.5:c.171A>G, NM_003948.4:c.171A>G, NM_003948.3:c.171A>G, XM_006714406.3:c.171A>G, XM_006714406.2:c.171A>G, XM_006714406.1:c.171A>G, NM_001330724.2:c.171A>G, NM_001330724.1:c.171A>G, XM_017008811.2:c.171A>G, XM_017008811.1:c.171A>G, XM_017008809.2:c.171A>G, XM_017008809.1:c.171A>G, XM_017008810.2:c.171A>G, XM_017008810.1:c.171A>G, XM_047416383.1:c.171A>G, XM_047416384.1:c.171A>G, XM_047416382.1:c.171A>G, XM_047416386.1:c.-412A>G, XM_047416385.1:c.171A>G, XM_047416387.1:c.171A>G

Select item 144939131919.

rs1449391319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75596252 (GRCh38)
4:76521436 (GRCh37)
Canonical SPDI:: NC_000004.12:75596251:T:C
Gene:: CDKL2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75596252T>C, NC_000004.11:g.76521436T>C, NM_003948.5:c.1411A>G, NM_003948.4:c.1411A>G, NM_003948.3:c.1411A>G, XM_006714406.3:c.1411A>G, XM_006714406.2:c.1411A>G, XM_006714406.1:c.1411A>G, NM_001330724.2:c.1411A>G, NM_001330724.1:c.1411A>G, XM_017008811.2:c.1411A>G, XM_017008811.1:c.1411A>G, XM_017008809.2:c.1411A>G, XM_017008809.1:c.1411A>G, XM_017008810.2:c.1411A>G, XM_017008810.1:c.1411A>G, XM_047416383.1:c.1411A>G, XM_047416384.1:c.1411A>G, XM_047416382.1:c.1411A>G, XM_047416386.1:c.829A>G, XM_047416385.1:c.1411A>G, XM_047416387.1:c.*80A>G, NP_003939.1:p.Thr471Ala, XP_006714469.1:p.Thr471Ala, NP_001317653.1:p.Thr471Ala, XP_016864300.1:p.Thr471Ala, XP_016864298.1:p.Thr471Ala, XP_016864299.1:p.Thr471Ala, XP_047272339.1:p.Thr471Ala, XP_047272340.1:p.Thr471Ala, XP_047272338.1:p.Thr471Ala, XP_047272342.1:p.Thr277Ala, XP_047272341.1:p.Thr471Ala

Select item 144819221320.

rs1448192213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:75592243 (GRCh38)
4:76517427 (GRCh37)
Canonical SPDI:: NC_000004.12:75592242:C:T
Gene:: CDKL2 (Varview)
Functional Consequence:: intron_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.75592243C>T, NC_000004.11:g.76517427C>T, NM_001330724.2:c.1443G>A, NM_001330724.1:c.1443G>A, XM_017008809.2:c.1443G>A, XM_017008809.1:c.1443G>A, XM_047416383.1:c.1443G>A, XM_047416382.1:c.1443G>A, XM_047416386.1:c.861G>A, NP_001317653.1:p.Trp481Ter, XP_016864298.1:p.Trp481Ter, XP_047272339.1:p.Trp481Ter, XP_047272338.1:p.Trp481Ter, XP_047272342.1:p.Trp287Ter

dbSNP

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Result Filters

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 555

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