SNP Links for Protein (Select 746815975) - SNP

Select item 14839661521.

rs1483966152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:12308321 (GRCh38)
18:12308320 (GRCh37)
Canonical SPDI:: NC_000018.10:12308320:G:T
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.12308321G>T, NC_000018.9:g.12308320G>T, NM_001303530.3:c.-877G>T, NM_001303530.2:c.-877G>T, NM_001303530.1:c.-877G>T, NM_001303529.3:c.-668G>T, NM_001303529.2:c.-668G>T, NM_001303529.1:c.-668G>T, NM_032525.3:c.29G>T, NM_032525.2:c.29G>T, NM_032525.1:c.29G>T, NM_001303528.2:c.-283G>T, NM_001303528.1:c.-283G>T, NM_001303527.2:c.-79G>T, NM_001303527.1:c.-79G>T, NM_001303526.2:c.29G>T, NM_001303526.1:c.29G>T, NM_001303525.2:c.29G>T, NM_001303525.1:c.29G>T, NM_001303524.1:c.29G>T, NP_115914.1:p.Gly10Val, NP_001290455.1:p.Gly10Val, NP_001290454.1:p.Gly10Val, NP_001290453.1:p.Gly10Val

Select item 14836128502.

rs1483612850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:12308334 (GRCh38)
18:12308333 (GRCh37)
Canonical SPDI:: NC_000018.10:12308333:C:T
Gene:: TUBB6 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.12308334C>T, NC_000018.9:g.12308333C>T, NM_001303530.3:c.-864C>T, NM_001303530.2:c.-864C>T, NM_001303530.1:c.-864C>T, NM_001303529.3:c.-655C>T, NM_001303529.2:c.-655C>T, NM_001303529.1:c.-655C>T, NM_032525.3:c.42C>T, NM_032525.2:c.42C>T, NM_032525.1:c.42C>T, NM_001303528.2:c.-270C>T, NM_001303528.1:c.-270C>T, NM_001303527.2:c.-66C>T, NM_001303527.1:c.-66C>T, NM_001303526.2:c.42C>T, NM_001303526.1:c.42C>T, NM_001303525.2:c.42C>T, NM_001303525.1:c.42C>T, NM_001303524.1:c.42C>T

Select item 14824391113.

rs1482439111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:12325225 (GRCh38)
18:12325224 (GRCh37)
Canonical SPDI:: NC_000018.10:12325224:G:C
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12325225G>C, NC_000018.9:g.12325224G>C, NM_001303530.3:c.-3G>C, NM_001303530.2:c.-3G>C, NM_001303530.1:c.-3G>C, NM_001303529.3:c.-3G>C, NM_001303529.2:c.-3G>C, NM_001303529.1:c.-3G>C, NM_032525.3:c.436G>C, NM_032525.2:c.436G>C, NM_032525.1:c.436G>C, NM_001303528.2:c.241G>C, NM_001303528.1:c.241G>C, NM_001303527.2:c.220G>C, NM_001303527.1:c.220G>C, NM_001303526.2:c.325G>C, NM_001303526.1:c.325G>C, NM_001303524.1:c.436G>C, NP_115914.1:p.Gly146Arg, NP_001290457.1:p.Gly81Arg, NP_001290456.1:p.Gly74Arg, NP_001290455.1:p.Gly109Arg, NP_001290453.1:p.Gly146Arg

Select item 14817660354.

rs1481766035 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGCGATCCGCGCCATGGCCGC>- [Show Flanks]
Chromosome:: 18:12325695 (GRCh38)
18:12325694 (GRCh37)
Canonical SPDI:: NC_000018.10:12325686:ATGGCCGCCTGCGATCCGCGCCATGGCCGC:ATGGCCGC
Gene:: TUBB6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGGCCGC=0.000043/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.12325695_12325716del, NC_000018.9:g.12325694_12325715del, NM_001303530.3:c.468_489del, NM_001303530.2:c.468_489del, NM_001303530.1:c.468_489del, NM_001303529.3:c.468_489del, NM_001303529.2:c.468_489del, NM_001303529.1:c.468_489del, NM_032525.3:c.906_927del, NM_032525.2:c.906_927del, NM_032525.1:c.906_927del, NM_001303528.2:c.711_732del, NM_001303528.1:c.711_732del, NM_001303527.2:c.690_711del, NM_001303527.1:c.690_711del, NM_001303526.2:c.795_816del, NM_001303526.1:c.795_816del, NM_001303524.1:c.906_927del, NP_001290459.1:p.Cys157fs, NP_001290458.1:p.Cys157fs, NP_115914.1:p.Cys303fs, NP_001290457.1:p.Cys238fs, NP_001290456.1:p.Cys231fs, NP_001290455.1:p.Cys266fs, NP_001290453.1:p.Cys303fs

Select item 14776034505.

rs1477603450 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCA [Show Flanks]
Chromosome:: 18:12326025 (GRCh38)
18:12326025 (GRCh37)
Canonical SPDI:: NC_000018.10:12326025:AGCA:AGCAGCA
Gene:: TUBB6 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AGCAGCA=0./0 (ALFA)
HGVS:: NC_000018.10:g.12326027_12326029dup, NC_000018.9:g.12326026_12326028dup, NM_001303530.3:c.800_802dup, NM_001303530.2:c.800_802dup, NM_001303530.1:c.800_802dup, NM_001303529.3:c.800_802dup, NM_001303529.2:c.800_802dup, NM_001303529.1:c.800_802dup, NM_032525.3:c.1238_1240dup, NM_032525.2:c.1238_1240dup, NM_032525.1:c.1238_1240dup, NM_001303528.2:c.1043_1045dup, NM_001303528.1:c.1043_1045dup, NM_001303527.2:c.1022_1024dup, NM_001303527.1:c.1022_1024dup, NM_001303526.2:c.1127_1129dup, NM_001303526.1:c.1127_1129dup, NM_001303524.1:c.1238_1240dup, NP_001290459.1:p.Ser267dup, NP_001290458.1:p.Ser267dup, NP_115914.1:p.Ser413dup, NP_001290457.1:p.Ser348dup, NP_001290456.1:p.Ser341dup, NP_001290455.1:p.Ser376dup, NP_001290453.1:p.Ser413dup

Select item 14720880906.

rs1472088090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12325147 (GRCh38)
18:12325146 (GRCh37)
Canonical SPDI:: NC_000018.10:12325146:G:A
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12325147G>A, NC_000018.9:g.12325146G>A, NM_001303530.3:c.-81G>A, NM_001303530.2:c.-81G>A, NM_001303530.1:c.-81G>A, NM_001303529.3:c.-81G>A, NM_001303529.2:c.-81G>A, NM_001303529.1:c.-81G>A, NM_032525.3:c.358G>A, NM_032525.2:c.358G>A, NM_032525.1:c.358G>A, NM_001303528.2:c.163G>A, NM_001303528.1:c.163G>A, NM_001303527.2:c.142G>A, NM_001303527.1:c.142G>A, NM_001303526.2:c.247G>A, NM_001303526.1:c.247G>A, NM_001303524.1:c.358G>A, NP_115914.1:p.Val120Met, NP_001290457.1:p.Val55Met, NP_001290456.1:p.Val48Met, NP_001290455.1:p.Val83Met, NP_001290453.1:p.Val120Met

Select item 14719873507.

rs1471987350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12308741 (GRCh38)
18:12308740 (GRCh37)
Canonical SPDI:: NC_000018.10:12308740:G:A
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12308741G>A, NC_000018.9:g.12308740G>A, NM_001303530.3:c.-794G>A, NM_001303530.2:c.-794G>A, NM_001303530.1:c.-794G>A, NM_001303529.3:c.-585G>A, NM_001303529.2:c.-585G>A, NM_001303529.1:c.-585G>A, NM_032525.3:c.112G>A, NM_032525.2:c.112G>A, NM_032525.1:c.112G>A, NM_001303528.2:c.-200G>A, NM_001303528.1:c.-200G>A, NM_001303526.2:c.112G>A, NM_001303526.1:c.112G>A, NM_001303525.2:c.112G>A, NM_001303525.1:c.112G>A, NM_001303524.1:c.112G>A, NP_115914.1:p.Gly38Arg, NP_001290455.1:p.Gly38Arg, NP_001290454.1:p.Gly38Arg, NP_001290453.1:p.Gly38Arg

Select item 14716991048.

rs1471699104 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 18:12325243 (GRCh38)
18:12325242 (GRCh37)
Canonical SPDI:: NC_000018.10:12325242:A:
Gene:: TUBB6 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12325243del, NC_000018.9:g.12325242del, NM_001303530.3:c.16del, NM_001303530.2:c.16del, NM_001303530.1:c.16del, NM_001303529.3:c.16del, NM_001303529.2:c.16del, NM_001303529.1:c.16del, NM_032525.3:c.454del, NM_032525.2:c.454del, NM_032525.1:c.454del, NM_001303528.2:c.259del, NM_001303528.1:c.259del, NM_001303527.2:c.238del, NM_001303527.1:c.238del, NM_001303526.2:c.343del, NM_001303526.1:c.343del, NM_001303524.1:c.454del, NP_001290459.1:p.Ile6fs, NP_001290458.1:p.Ile6fs, NP_115914.1:p.Ile152fs, NP_001290457.1:p.Ile87fs, NP_001290456.1:p.Ile80fs, NP_001290455.1:p.Ile115fs, NP_001290453.1:p.Ile152fs

Select item 14716474679.

rs1471647467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:12326055 (GRCh38)
18:12326054 (GRCh37)
Canonical SPDI:: NC_000018.10:12326054:C:G
Gene:: TUBB6 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12326055C>G, NC_000018.9:g.12326054C>G, NM_001303530.3:c.828C>G, NM_001303530.2:c.828C>G, NM_001303530.1:c.828C>G, NM_001303529.3:c.828C>G, NM_001303529.2:c.828C>G, NM_001303529.1:c.828C>G, NM_032525.3:c.1266C>G, NM_032525.2:c.1266C>G, NM_032525.1:c.1266C>G, NM_001303528.2:c.1071C>G, NM_001303528.1:c.1071C>G, NM_001303527.2:c.1050C>G, NM_001303527.1:c.1050C>G, NM_001303526.2:c.1155C>G, NM_001303526.1:c.1155C>G, NM_001303524.1:c.1266C>G, NP_001290459.1:p.Tyr276Ter, NP_001290458.1:p.Tyr276Ter, NP_115914.1:p.Tyr422Ter, NP_001290457.1:p.Tyr357Ter, NP_001290456.1:p.Tyr350Ter, NP_001290455.1:p.Tyr385Ter, NP_001290453.1:p.Tyr422Ter

Select item 147015579210.

rs1470155792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:12325800 (GRCh38)
18:12325799 (GRCh37)
Canonical SPDI:: NC_000018.10:12325799:C:T
Gene:: TUBB6 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.12325800C>T, NC_000018.9:g.12325799C>T, NM_001303530.3:c.573C>T, NM_001303530.2:c.573C>T, NM_001303530.1:c.573C>T, NM_001303529.3:c.573C>T, NM_001303529.2:c.573C>T, NM_001303529.1:c.573C>T, NM_032525.3:c.1011C>T, NM_032525.2:c.1011C>T, NM_032525.1:c.1011C>T, NM_001303528.2:c.816C>T, NM_001303528.1:c.816C>T, NM_001303527.2:c.795C>T, NM_001303527.1:c.795C>T, NM_001303526.2:c.900C>T, NM_001303526.1:c.900C>T, NM_001303524.1:c.1011C>T

Select item 146946543911.

rs1469465439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:12325956 (GRCh38)
18:12325955 (GRCh37)
Canonical SPDI:: NC_000018.10:12325955:C:G,NC_000018.10:12325955:C:T
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000018.10:g.12325956C>G, NC_000018.10:g.12325956C>T, NC_000018.9:g.12325955C>G, NC_000018.9:g.12325955C>T, NM_001303530.3:c.729C>G, NM_001303530.3:c.729C>T, NM_001303530.2:c.729C>G, NM_001303530.2:c.729C>T, NM_001303530.1:c.729C>G, NM_001303530.1:c.729C>T, NM_001303529.3:c.729C>G, NM_001303529.3:c.729C>T, NM_001303529.2:c.729C>G, NM_001303529.2:c.729C>T, NM_001303529.1:c.729C>G, NM_001303529.1:c.729C>T, NM_032525.3:c.1167C>G, NM_032525.3:c.1167C>T, NM_032525.2:c.1167C>G, NM_032525.2:c.1167C>T, NM_032525.1:c.1167C>G, NM_032525.1:c.1167C>T, NM_001303528.2:c.972C>G, NM_001303528.2:c.972C>T, NM_001303528.1:c.972C>G, NM_001303528.1:c.972C>T, NM_001303527.2:c.951C>G, NM_001303527.2:c.951C>T, NM_001303527.1:c.951C>G, NM_001303527.1:c.951C>T, NM_001303526.2:c.1056C>G, NM_001303526.2:c.1056C>T, NM_001303526.1:c.1056C>G, NM_001303526.1:c.1056C>T, NM_001303524.1:c.1167C>G, NM_001303524.1:c.1167C>T, NP_001290459.1:p.Phe243Leu, NP_001290458.1:p.Phe243Leu, NP_115914.1:p.Phe389Leu, NP_001290457.1:p.Phe324Leu, NP_001290456.1:p.Phe317Leu, NP_001290455.1:p.Phe352Leu, NP_001290453.1:p.Phe389Leu

Select item 146383824012.

rs1463838240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:12308335 (GRCh38)
18:12308334 (GRCh37)
Canonical SPDI:: NC_000018.10:12308334:C:A
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.12308335C>A, NC_000018.9:g.12308334C>A, NM_001303530.3:c.-863C>A, NM_001303530.2:c.-863C>A, NM_001303530.1:c.-863C>A, NM_001303529.3:c.-654C>A, NM_001303529.2:c.-654C>A, NM_001303529.1:c.-654C>A, NM_032525.3:c.43C>A, NM_032525.2:c.43C>A, NM_032525.1:c.43C>A, NM_001303528.2:c.-269C>A, NM_001303528.1:c.-269C>A, NM_001303527.2:c.-65C>A, NM_001303527.1:c.-65C>A, NM_001303526.2:c.43C>A, NM_001303526.1:c.43C>A, NM_001303525.2:c.43C>A, NM_001303525.1:c.43C>A, NM_001303524.1:c.43C>A, NP_115914.1:p.Gln15Lys, NP_001290455.1:p.Gln15Lys, NP_001290454.1:p.Gln15Lys, NP_001290453.1:p.Gln15Lys

Select item 146179317913.

rs1461793179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:12308296 (GRCh38)
18:12308295 (GRCh37)
Canonical SPDI:: NC_000018.10:12308295:A:G
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.12308296A>G, NC_000018.9:g.12308295A>G, NM_001303530.3:c.-902A>G, NM_001303530.2:c.-902A>G, NM_001303530.1:c.-902A>G, NM_001303529.3:c.-693A>G, NM_001303529.2:c.-693A>G, NM_001303529.1:c.-693A>G, NM_032525.3:c.4A>G, NM_032525.2:c.4A>G, NM_032525.1:c.4A>G, NM_001303528.2:c.-308A>G, NM_001303528.1:c.-308A>G, NM_001303527.2:c.-104A>G, NM_001303527.1:c.-104A>G, NM_001303526.2:c.4A>G, NM_001303526.1:c.4A>G, NM_001303525.2:c.4A>G, NM_001303525.1:c.4A>G, NM_001303524.1:c.4A>G, NP_115914.1:p.Arg2Gly, NP_001290455.1:p.Arg2Gly, NP_001290454.1:p.Arg2Gly, NP_001290453.1:p.Arg2Gly

Select item 146095481914.

rs1460954819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:12326028 (GRCh38)
18:12326027 (GRCh37)
Canonical SPDI:: NC_000018.10:12326027:C:T
Gene:: TUBB6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000018.10:g.12326028C>T, NC_000018.9:g.12326027C>T, NM_001303530.3:c.801C>T, NM_001303530.2:c.801C>T, NM_001303530.1:c.801C>T, NM_001303529.3:c.801C>T, NM_001303529.2:c.801C>T, NM_001303529.1:c.801C>T, NM_032525.3:c.1239C>T, NM_032525.2:c.1239C>T, NM_032525.1:c.1239C>T, NM_001303528.2:c.1044C>T, NM_001303528.1:c.1044C>T, NM_001303527.2:c.1023C>T, NM_001303527.1:c.1023C>T, NM_001303526.2:c.1128C>T, NM_001303526.1:c.1128C>T, NM_001303524.1:c.1239C>T

Select item 145969989815.

rs1459699898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:12308697 (GRCh38)
18:12308696 (GRCh37)
Canonical SPDI:: NC_000018.10:12308696:T:A
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12308697T>A, NC_000018.9:g.12308696T>A, NM_001303530.3:c.-838T>A, NM_001303530.2:c.-838T>A, NM_001303530.1:c.-838T>A, NM_001303529.3:c.-629T>A, NM_001303529.2:c.-629T>A, NM_001303529.1:c.-629T>A, NM_032525.3:c.68T>A, NM_032525.2:c.68T>A, NM_032525.1:c.68T>A, NM_001303528.2:c.-244T>A, NM_001303528.1:c.-244T>A, NM_001303526.2:c.68T>A, NM_001303526.1:c.68T>A, NM_001303525.2:c.68T>A, NM_001303525.1:c.68T>A, NM_001303524.1:c.68T>A, NP_115914.1:p.Val23Glu, NP_001290455.1:p.Val23Glu, NP_001290454.1:p.Val23Glu, NP_001290453.1:p.Val23Glu

Select item 145932478216.

rs1459324782 [Homo sapiens]

Variant type:: DEL
Alleles:: ACTACACGGAGGG>- [Show Flanks]
Chromosome:: 18:12325103 (GRCh38)
18:12325102 (GRCh37)
Canonical SPDI:: NC_000018.10:12325102:ACTACACGGAGGG:
Gene:: TUBB6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.12325103_12325115del, NC_000018.9:g.12325102_12325114del, NM_001303530.3:c.-125_-113del, NM_001303530.2:c.-125_-113del, NM_001303530.1:c.-125_-113del, NM_001303529.3:c.-125_-113del, NM_001303529.2:c.-125_-113del, NM_001303529.1:c.-125_-113del, NM_032525.3:c.314_326del, NM_032525.2:c.314_326del, NM_032525.1:c.314_326del, NM_001303528.2:c.119_131del, NM_001303528.1:c.119_131del, NM_001303527.2:c.98_110del, NM_001303527.1:c.98_110del, NM_001303526.2:c.203_215del, NM_001303526.1:c.203_215del, NM_001303524.1:c.314_326del, NP_115914.1:p.His105fs, NP_001290457.1:p.His40fs, NP_001290456.1:p.His33fs, NP_001290455.1:p.His68fs, NP_001290453.1:p.His105fs

Select item 145777765617.

rs1457777656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12325480 (GRCh38)
18:12325479 (GRCh37)
Canonical SPDI:: NC_000018.10:12325479:G:A
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.12325480G>A, NC_000018.9:g.12325479G>A, NM_001303530.3:c.253G>A, NM_001303530.2:c.253G>A, NM_001303530.1:c.253G>A, NM_001303529.3:c.253G>A, NM_001303529.2:c.253G>A, NM_001303529.1:c.253G>A, NM_032525.3:c.691G>A, NM_032525.2:c.691G>A, NM_032525.1:c.691G>A, NM_001303528.2:c.496G>A, NM_001303528.1:c.496G>A, NM_001303527.2:c.475G>A, NM_001303527.1:c.475G>A, NM_001303526.2:c.580G>A, NM_001303526.1:c.580G>A, NM_001303524.1:c.691G>A, NP_001290459.1:p.Ala85Thr, NP_001290458.1:p.Ala85Thr, NP_115914.1:p.Ala231Thr, NP_001290457.1:p.Ala166Thr, NP_001290456.1:p.Ala159Thr, NP_001290455.1:p.Ala194Thr, NP_001290453.1:p.Ala231Thr

Select item 145600155618.

rs1456001556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:12325425 (GRCh38)
18:12325424 (GRCh37)
Canonical SPDI:: NC_000018.10:12325424:C:G
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.12325425C>G, NC_000018.9:g.12325424C>G, NM_001303530.3:c.198C>G, NM_001303530.2:c.198C>G, NM_001303530.1:c.198C>G, NM_001303529.3:c.198C>G, NM_001303529.2:c.198C>G, NM_001303529.1:c.198C>G, NM_032525.3:c.636C>G, NM_032525.2:c.636C>G, NM_032525.1:c.636C>G, NM_001303528.2:c.441C>G, NM_001303528.1:c.441C>G, NM_001303527.2:c.420C>G, NM_001303527.1:c.420C>G, NM_001303526.2:c.525C>G, NM_001303526.1:c.525C>G, NM_001303524.1:c.636C>G, NP_001290459.1:p.Phe66Leu, NP_001290458.1:p.Phe66Leu, NP_115914.1:p.Phe212Leu, NP_001290457.1:p.Phe147Leu, NP_001290456.1:p.Phe140Leu, NP_001290455.1:p.Phe175Leu, NP_001290453.1:p.Phe212Leu

Select item 145303116219.

rs1453031162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:12325741 (GRCh38)
18:12325740 (GRCh37)
Canonical SPDI:: NC_000018.10:12325740:C:T
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.12325741C>T, NC_000018.9:g.12325740C>T, NM_001303530.3:c.514C>T, NM_001303530.2:c.514C>T, NM_001303530.1:c.514C>T, NM_001303529.3:c.514C>T, NM_001303529.2:c.514C>T, NM_001303529.1:c.514C>T, NM_032525.3:c.952C>T, NM_032525.2:c.952C>T, NM_032525.1:c.952C>T, NM_001303528.2:c.757C>T, NM_001303528.1:c.757C>T, NM_001303527.2:c.736C>T, NM_001303527.1:c.736C>T, NM_001303526.2:c.841C>T, NM_001303526.1:c.841C>T, NM_001303524.1:c.952C>T, NP_001290459.1:p.Arg172Cys, NP_001290458.1:p.Arg172Cys, NP_115914.1:p.Arg318Cys, NP_001290457.1:p.Arg253Cys, NP_001290456.1:p.Arg246Cys, NP_001290455.1:p.Arg281Cys, NP_001290453.1:p.Arg318Cys

Select item 145022731820.

rs1450227318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:12325126 (GRCh38)
18:12325125 (GRCh37)
Canonical SPDI:: NC_000018.10:12325125:G:A
Gene:: TUBB6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000039/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.12325126G>A, NC_000018.9:g.12325125G>A, NM_001303530.3:c.-102G>A, NM_001303530.2:c.-102G>A, NM_001303530.1:c.-102G>A, NM_001303529.3:c.-102G>A, NM_001303529.2:c.-102G>A, NM_001303529.1:c.-102G>A, NM_032525.3:c.337G>A, NM_032525.2:c.337G>A, NM_032525.1:c.337G>A, NM_001303528.2:c.142G>A, NM_001303528.1:c.142G>A, NM_001303527.2:c.121G>A, NM_001303527.1:c.121G>A, NM_001303526.2:c.226G>A, NM_001303526.1:c.226G>A, NM_001303524.1:c.337G>A, NP_115914.1:p.Val113Met, NP_001290457.1:p.Val48Met, NP_001290456.1:p.Val41Met, NP_001290455.1:p.Val76Met, NP_001290453.1:p.Val113Met

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