SNP Links for Protein (Select 1034607960) - SNP

Links from Protein

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Select item 14900069921.

rs1490006992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52385099 (GRCh38)
19:52888352 (GRCh37)
Canonical SPDI:: NC_000019.10:52385098:C:T
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52385099C>T, NC_000019.9:g.52888352C>T, XR_001753689.3:n.2740C>T, XR_001753689.2:n.2873C>T, XR_001753689.1:n.2743C>T, XR_001753688.3:n.1562C>T, XR_001753688.2:n.1562C>T, XR_001753688.1:n.1585C>T, XM_017026812.3:c.1519C>T, XM_017026812.2:c.1519C>T, XM_017026812.1:c.1519C>T, NM_001145434.2:c.1519C>T, NM_001145434.1:c.1519C>T, XR_007066826.1:n.1574C>T, XR_007066827.1:n.1484C>T, XP_016882301.1:p.Leu507Phe, NP_001138906.1:p.Leu507Phe

Select item 14897237512.

rs1489723751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:52385035 (GRCh38)
19:52888288 (GRCh37)
Canonical SPDI:: NC_000019.10:52385034:C:A,NC_000019.10:52385034:C:T
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
T=0.000015/2 (GnomAD)
A=0.002053/6 (KOREAN)
HGVS:: NC_000019.10:g.52385035C>A, NC_000019.10:g.52385035C>T, NC_000019.9:g.52888288C>A, NC_000019.9:g.52888288C>T, XR_001753689.3:n.2676C>A, XR_001753689.3:n.2676C>T, XR_001753689.2:n.2809C>A, XR_001753689.2:n.2809C>T, XR_001753689.1:n.2679C>A, XR_001753689.1:n.2679C>T, XR_001753688.3:n.1498C>A, XR_001753688.3:n.1498C>T, XR_001753688.2:n.1498C>A, XR_001753688.2:n.1498C>T, XR_001753688.1:n.1521C>A, XR_001753688.1:n.1521C>T, XM_017026812.3:c.1455C>A, XM_017026812.3:c.1455C>T, XM_017026812.2:c.1455C>A, XM_017026812.2:c.1455C>T, XM_017026812.1:c.1455C>A, XM_017026812.1:c.1455C>T, NM_001145434.2:c.1455C>A, NM_001145434.2:c.1455C>T, NM_001145434.1:c.1455C>A, NM_001145434.1:c.1455C>T, XR_007066826.1:n.1510C>A, XR_007066826.1:n.1510C>T, XR_007066827.1:n.1420C>A, XR_007066827.1:n.1420C>T

Select item 14870864943.

rs1487086494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:52383911 (GRCh38)
19:52887165 (GRCh37)
Canonical SPDI:: NC_000019.10:52383911:CC:CCC
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52383913dup, NC_000019.9:g.52887166dup, XR_001753689.3:n.1554dup, XR_001753689.2:n.1687dup, XR_001753689.1:n.1557dup, XR_001753688.3:n.376dup, XR_001753688.2:n.376dup, XR_001753688.1:n.399dup, XM_017026812.3:c.333dup, XM_017026812.2:c.333dup, XM_017026812.1:c.333dup, NM_001145434.2:c.333dup, NM_001145434.1:c.333dup, XR_007066826.1:n.388dup, XR_007066827.1:n.298dup, XP_016882301.1:p.Phe112fs, NP_001138906.1:p.Phe112fs

Select item 14869818544.

rs1486981854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52384623 (GRCh38)
19:52887876 (GRCh37)
Canonical SPDI:: NC_000019.10:52384622:G:A
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52384623G>A, NC_000019.9:g.52887876G>A, XR_001753689.3:n.2264G>A, XR_001753689.2:n.2397G>A, XR_001753689.1:n.2267G>A, XR_001753688.3:n.1086G>A, XR_001753688.2:n.1086G>A, XR_001753688.1:n.1109G>A, XM_017026812.3:c.1043G>A, XM_017026812.2:c.1043G>A, XM_017026812.1:c.1043G>A, NM_001145434.2:c.1043G>A, NM_001145434.1:c.1043G>A, XR_007066826.1:n.1098G>A, XR_007066827.1:n.1008G>A, XP_016882301.1:p.Gly348Glu, NP_001138906.1:p.Gly348Glu

Select item 14859184765.

rs1485918476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:52373135 (GRCh38)
19:52876388 (GRCh37)
Canonical SPDI:: NC_000019.10:52373134:G:C
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_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_000019.10:g.52373135G>C, NC_000019.9:g.52876388G>C, XR_001753688.3:n.80G>C, XR_001753688.2:n.80G>C, XR_001753688.1:n.103G>C, XM_017026812.3:c.37G>C, XM_017026812.2:c.37G>C, XM_017026812.1:c.37G>C, NM_001145434.2:c.37G>C, NM_001145434.1:c.37G>C, XR_007066826.1:n.92G>C, XM_047438837.1:c.37G>C, XM_047438838.1:c.37G>C, XP_016882301.1:p.Ala13Pro, NP_001138906.1:p.Ala13Pro, XP_047294793.1:p.Ala13Pro, XP_047294794.1:p.Ala13Pro

Select item 14837034246.

rs1483703424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52385194 (GRCh38)
19:52888447 (GRCh37)
Canonical SPDI:: NC_000019.10:52385193:T:C
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000019.10:g.52385194T>C, NC_000019.9:g.52888447T>C, XR_001753689.3:n.2835T>C, XR_001753689.2:n.2968T>C, XR_001753689.1:n.2838T>C, XR_001753688.3:n.1657T>C, XR_001753688.2:n.1657T>C, XR_001753688.1:n.1680T>C, XM_017026812.3:c.1614T>C, XM_017026812.2:c.1614T>C, XM_017026812.1:c.1614T>C, NM_001145434.2:c.1614T>C, NM_001145434.1:c.1614T>C, XR_007066826.1:n.1669T>C, XR_007066827.1:n.1579T>C

Select item 14833473977.

rs1483347397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52384804 (GRCh38)
19:52888057 (GRCh37)
Canonical SPDI:: NC_000019.10:52384803:C:T
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52384804C>T, NC_000019.9:g.52888057C>T, XR_001753689.3:n.2445C>T, XR_001753689.2:n.2578C>T, XR_001753689.1:n.2448C>T, XR_001753688.3:n.1267C>T, XR_001753688.2:n.1267C>T, XR_001753688.1:n.1290C>T, XM_017026812.3:c.1224C>T, XM_017026812.2:c.1224C>T, XM_017026812.1:c.1224C>T, NM_001145434.2:c.1224C>T, NM_001145434.1:c.1224C>T, XR_007066826.1:n.1279C>T, XR_007066827.1:n.1189C>T

Select item 14805697048.

rs1480569704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:52383859 (GRCh38)
19:52887112 (GRCh37)
Canonical SPDI:: NC_000019.10:52383858:T:G
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52383859T>G, NC_000019.9:g.52887112T>G, XR_001753689.3:n.1500T>G, XR_001753689.2:n.1633T>G, XR_001753689.1:n.1503T>G, XR_001753688.3:n.322T>G, XR_001753688.2:n.322T>G, XR_001753688.1:n.345T>G, XM_017026812.3:c.279T>G, XM_017026812.2:c.279T>G, XM_017026812.1:c.279T>G, NM_001145434.2:c.279T>G, NM_001145434.1:c.279T>G, XR_007066826.1:n.334T>G, XR_007066827.1:n.244T>G

Select item 14795155979.

rs1479515597 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGGCCGAGGCGGG [Show Flanks]
Chromosome:: 19:52384819 (GRCh38)
19:52888073 (GRCh37)
Canonical SPDI:: NC_000019.10:52384819:GG:GGGAGGCCGAGGCGGG
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAGGCCGAGGCGGG=0.00112/15 (ALFA)
GGGAGGCCGAGGCG=0.00234/39 (TOMMO)
HGVS:: NC_000019.10:g.52384821_52384822insGAGGCCGAGGCGGG, NC_000019.9:g.52888074_52888075insGAGGCCGAGGCGGG, XR_001753689.3:n.2462_2463insGAGGCCGAGGCGGG, XR_001753689.2:n.2595_2596insGAGGCCGAGGCGGG, XR_001753689.1:n.2465_2466insGAGGCCGAGGCGGG, XR_001753688.3:n.1284_1285insGAGGCCGAGGCGGG, XR_001753688.2:n.1284_1285insGAGGCCGAGGCGGG, XR_001753688.1:n.1307_1308insGAGGCCGAGGCGGG, XM_017026812.3:c.1241_1242insGAGGCCGAGGCGGG, XM_017026812.2:c.1241_1242insGAGGCCGAGGCGGG, XM_017026812.1:c.1241_1242insGAGGCCGAGGCGGG, NM_001145434.2:c.1241_1242insGAGGCCGAGGCGGG, NM_001145434.1:c.1241_1242insGAGGCCGAGGCGGG, XR_007066826.1:n.1296_1297insGAGGCCGAGGCGGG, XR_007066827.1:n.1206_1207insGAGGCCGAGGCGGG, XP_016882301.1:p.Lys415fs, NP_001138906.1:p.Lys415fs

Select item 147949726210.

rs1479497262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:52385041 (GRCh38)
19:52888294 (GRCh37)
Canonical SPDI:: NC_000019.10:52385040:T:A
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.52385041T>A, NC_000019.9:g.52888294T>A, XR_001753689.3:n.2682T>A, XR_001753689.2:n.2815T>A, XR_001753689.1:n.2685T>A, XR_001753688.3:n.1504T>A, XR_001753688.2:n.1504T>A, XR_001753688.1:n.1527T>A, XM_017026812.3:c.1461T>A, XM_017026812.2:c.1461T>A, XM_017026812.1:c.1461T>A, NM_001145434.2:c.1461T>A, NM_001145434.1:c.1461T>A, XR_007066826.1:n.1516T>A, XR_007066827.1:n.1426T>A

Select item 147648845911.

rs1476488459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52383963 (GRCh38)
19:52887216 (GRCh37)
Canonical SPDI:: NC_000019.10:52383962:T:C
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52383963T>C, NC_000019.9:g.52887216T>C, XR_001753689.3:n.1604T>C, XR_001753689.2:n.1737T>C, XR_001753689.1:n.1607T>C, XR_001753688.3:n.426T>C, XR_001753688.2:n.426T>C, XR_001753688.1:n.449T>C, XM_017026812.3:c.383T>C, XM_017026812.2:c.383T>C, XM_017026812.1:c.383T>C, NM_001145434.2:c.383T>C, NM_001145434.1:c.383T>C, XR_007066826.1:n.438T>C, XR_007066827.1:n.348T>C, XP_016882301.1:p.Ile128Thr, NP_001138906.1:p.Ile128Thr

Select item 147588264312.

rs1475882643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52384198 (GRCh38)
19:52887451 (GRCh37)
Canonical SPDI:: NC_000019.10:52384197:C:T
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.52384198C>T, NC_000019.9:g.52887451C>T, XR_001753689.3:n.1839C>T, XR_001753689.2:n.1972C>T, XR_001753689.1:n.1842C>T, XR_001753688.3:n.661C>T, XR_001753688.2:n.661C>T, XR_001753688.1:n.684C>T, XM_017026812.3:c.618C>T, XM_017026812.2:c.618C>T, XM_017026812.1:c.618C>T, NM_001145434.2:c.618C>T, NM_001145434.1:c.618C>T, XR_007066826.1:n.673C>T, XR_007066827.1:n.583C>T

Select item 147517330013.

rs1475173300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52384268 (GRCh38)
19:52887521 (GRCh37)
Canonical SPDI:: NC_000019.10:52384267:C:T
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52384268C>T, NC_000019.9:g.52887521C>T, XR_001753689.3:n.1909C>T, XR_001753689.2:n.2042C>T, XR_001753689.1:n.1912C>T, XR_001753688.3:n.731C>T, XR_001753688.2:n.731C>T, XR_001753688.1:n.754C>T, XM_017026812.3:c.688C>T, XM_017026812.2:c.688C>T, XM_017026812.1:c.688C>T, NM_001145434.2:c.688C>T, NM_001145434.1:c.688C>T, XR_007066826.1:n.743C>T, XR_007066827.1:n.653C>T, XP_016882301.1:p.His230Tyr, NP_001138906.1:p.His230Tyr

Select item 147439069414.

rs1474390694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52385293 (GRCh38)
19:52888546 (GRCh37)
Canonical SPDI:: NC_000019.10:52385292:T:C
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52385293T>C, NC_000019.9:g.52888546T>C, XR_001753689.3:n.2934T>C, XR_001753689.2:n.3067T>C, XR_001753689.1:n.2937T>C, XR_001753688.3:n.1756T>C, XR_001753688.2:n.1756T>C, XR_001753688.1:n.1779T>C, XM_017026812.3:c.1713T>C, XM_017026812.2:c.1713T>C, XM_017026812.1:c.1713T>C, NM_001145434.2:c.1713T>C, NM_001145434.1:c.1713T>C, XR_007066826.1:n.1768T>C, XR_007066827.1:n.1678T>C

Select item 147321898515.

rs1473218985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:52384541 (GRCh38)
19:52887794 (GRCh37)
Canonical SPDI:: NC_000019.10:52384540:G:A,NC_000019.10:52384540:G:C
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52384541G>A, NC_000019.10:g.52384541G>C, NC_000019.9:g.52887794G>A, NC_000019.9:g.52887794G>C, XR_001753689.3:n.2182G>A, XR_001753689.3:n.2182G>C, XR_001753689.2:n.2315G>A, XR_001753689.2:n.2315G>C, XR_001753689.1:n.2185G>A, XR_001753689.1:n.2185G>C, XR_001753688.3:n.1004G>A, XR_001753688.3:n.1004G>C, XR_001753688.2:n.1004G>A, XR_001753688.2:n.1004G>C, XR_001753688.1:n.1027G>A, XR_001753688.1:n.1027G>C, XM_017026812.3:c.961G>A, XM_017026812.3:c.961G>C, XM_017026812.2:c.961G>A, XM_017026812.2:c.961G>C, XM_017026812.1:c.961G>A, XM_017026812.1:c.961G>C, NM_001145434.2:c.961G>A, NM_001145434.2:c.961G>C, NM_001145434.1:c.961G>A, NM_001145434.1:c.961G>C, XR_007066826.1:n.1016G>A, XR_007066826.1:n.1016G>C, XR_007066827.1:n.926G>A, XR_007066827.1:n.926G>C, XP_016882301.1:p.Glu321Lys, XP_016882301.1:p.Glu321Gln, NP_001138906.1:p.Glu321Lys, NP_001138906.1:p.Glu321Gln

Select item 147238976916.

rs1472389769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:52385053 (GRCh38)
19:52888306 (GRCh37)
Canonical SPDI:: NC_000019.10:52385052:T:G
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.52385053T>G, NC_000019.9:g.52888306T>G, XR_001753689.3:n.2694T>G, XR_001753689.2:n.2827T>G, XR_001753689.1:n.2697T>G, XR_001753688.3:n.1516T>G, XR_001753688.2:n.1516T>G, XR_001753688.1:n.1539T>G, XM_017026812.3:c.1473T>G, XM_017026812.2:c.1473T>G, XM_017026812.1:c.1473T>G, NM_001145434.2:c.1473T>G, NM_001145434.1:c.1473T>G, XR_007066826.1:n.1528T>G, XR_007066827.1:n.1438T>G

Select item 147045129217.

rs1470451292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52374369 (GRCh38)
19:52877622 (GRCh37)
Canonical SPDI:: NC_000019.10:52374368:T:C
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52374369T>C, NC_000019.9:g.52877622T>C, XR_001753688.3:n.253T>C, XR_001753688.2:n.253T>C, XR_001753688.1:n.276T>C, XM_017026812.3:c.210T>C, XM_017026812.2:c.210T>C, XM_017026812.1:c.210T>C, NM_001145434.2:c.210T>C, NM_001145434.1:c.210T>C, XR_007066826.1:n.265T>C, XM_047438837.1:c.210T>C, XM_047438838.1:c.210T>C

Select item 146902604618.

rs1469026046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52384360 (GRCh38)
19:52887613 (GRCh37)
Canonical SPDI:: NC_000019.10:52384359:A:G
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.52384360A>G, NC_000019.9:g.52887613A>G, XR_001753689.3:n.2001A>G, XR_001753689.2:n.2134A>G, XR_001753689.1:n.2004A>G, XR_001753688.3:n.823A>G, XR_001753688.2:n.823A>G, XR_001753688.1:n.846A>G, XM_017026812.3:c.780A>G, XM_017026812.2:c.780A>G, XM_017026812.1:c.780A>G, NM_001145434.2:c.780A>G, NM_001145434.1:c.780A>G, XR_007066826.1:n.835A>G, XR_007066827.1:n.745A>G

Select item 146784426519.

rs1467844265 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:52384136 (GRCh38)
19:52887389 (GRCh37)
Canonical SPDI:: NC_000019.10:52384135:T:G
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52384136T>G, NC_000019.9:g.52887389T>G, XR_001753689.3:n.1777T>G, XR_001753689.2:n.1910T>G, XR_001753689.1:n.1780T>G, XR_001753688.3:n.599T>G, XR_001753688.2:n.599T>G, XR_001753688.1:n.622T>G, XM_017026812.3:c.556T>G, XM_017026812.2:c.556T>G, XM_017026812.1:c.556T>G, NM_001145434.2:c.556T>G, NM_001145434.1:c.556T>G, XR_007066826.1:n.611T>G, XR_007066827.1:n.521T>G, XP_016882301.1:p.Cys186Gly, NP_001138906.1:p.Cys186Gly

Select item 146732071420.

rs1467320714 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAA>- [Show Flanks]
Chromosome:: 19:52383898 (GRCh38)
19:52887151 (GRCh37)
Canonical SPDI:: NC_000019.10:52383895:AATCAA:AA
Gene:: ZNF880 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52383898_52383901del, NC_000019.9:g.52887151_52887154del, XR_001753689.3:n.1539_1542del, XR_001753689.2:n.1672_1675del, XR_001753689.1:n.1542_1545del, XR_001753688.3:n.361_364del, XR_001753688.2:n.361_364del, XR_001753688.1:n.384_387del, XM_017026812.3:c.318_321del, XM_017026812.2:c.318_321del, XM_017026812.1:c.318_321del, NM_001145434.2:c.318_321del, NM_001145434.1:c.318_321del, XR_007066826.1:n.373_376del, XR_007066827.1:n.283_286del, XP_016882301.1:p.Gln107fs, NP_001138906.1:p.Gln107fs

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