SNP Links for Protein (Select 570359601) - SNP

Select item 14905778761.

rs1490577876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:128250733 (GRCh38)
9:131013012 (GRCh37)
Canonical SPDI:: NC_000009.12:128250732:C:A
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000009.12:g.128250733C>A, NC_000009.11:g.131013012C>A, NG_029726.1:g.52350C>A, NM_004408.4:c.2327C>A, NM_004408.3:c.2327C>A, NM_004408.2:c.2327C>A, NM_001005336.3:c.2327C>A, NM_001005336.2:c.2327C>A, NM_001005336.1:c.2327C>A, NM_001288738.2:c.2327C>A, NM_001288738.1:c.2327C>A, NM_001288737.2:c.2327C>A, NM_001288737.1:c.2327C>A, NM_001288739.2:c.2327C>A, NM_001288739.1:c.2327C>A, NM_001374269.1:c.2327C>A, NP_004399.2:p.Thr776Lys, NP_001005336.1:p.Thr776Lys, NP_001275667.1:p.Thr776Lys, NP_001275666.1:p.Thr776Lys, NP_001275668.1:p.Thr776Lys, NP_001361198.1:p.Thr776Lys

Select item 14900073632.

rs1490007363 has merged into rs1350836864 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC [Show Flanks]
Chromosome:: 9:128250302 (GRCh38)
9:131012581 (GRCh37)
Canonical SPDI:: NC_000009.12:128250300:CCCCC:C,NC_000009.12:128250300:CCCCC:CCC
Gene:: DNM1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128250302_128250305del, NC_000009.12:g.128250304_128250305del, NC_000009.11:g.131012581_131012584del, NC_000009.11:g.131012583_131012584del, NG_029726.1:g.51919_51922del, NG_029726.1:g.51921_51922del, NM_004408.4:c.2264_2267del, NM_004408.4:c.2266_2267del, NM_004408.3:c.2264_2267del, NM_004408.3:c.2266_2267del, NM_004408.2:c.2264_2267del, NM_004408.2:c.2266_2267del, NM_001005336.3:c.2264_2267del, NM_001005336.3:c.2266_2267del, NM_001005336.2:c.2264_2267del, NM_001005336.2:c.2266_2267del, NM_001005336.1:c.2264_2267del, NM_001005336.1:c.2266_2267del, NM_001288738.2:c.2264_2267del, NM_001288738.2:c.2266_2267del, NM_001288738.1:c.2264_2267del, NM_001288738.1:c.2266_2267del, NM_001288737.2:c.2264_2267del, NM_001288737.2:c.2266_2267del, NM_001288737.1:c.2264_2267del, NM_001288737.1:c.2266_2267del, NM_001288739.2:c.2264_2267del, NM_001288739.2:c.2266_2267del, NM_001288739.1:c.2264_2267del, NM_001288739.1:c.2266_2267del, NM_001374269.1:c.2264_2267del, NM_001374269.1:c.2266_2267del, NP_004399.2:p.Pro755fs, NP_004399.2:p.Pro756fs, NP_001005336.1:p.Pro755fs, NP_001005336.1:p.Pro756fs, NP_001275667.1:p.Pro755fs, NP_001275667.1:p.Pro756fs, NP_001275666.1:p.Pro755fs, NP_001275666.1:p.Pro756fs, NP_001275668.1:p.Pro755fs, NP_001275668.1:p.Pro756fs, NP_001361198.1:p.Pro755fs, NP_001361198.1:p.Pro756fs

Select item 14869702113.

rs1486970211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:128250796 (GRCh38)
9:131013075 (GRCh37)
Canonical SPDI:: NC_000009.12:128250795:G:T
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000009.12:g.128250796G>T, NC_000009.11:g.131013075G>T, NG_029726.1:g.52413G>T, NM_004408.4:c.2390G>T, NM_004408.3:c.2390G>T, NM_004408.2:c.2390G>T, NM_001005336.3:c.2390G>T, NM_001005336.2:c.2390G>T, NM_001005336.1:c.2390G>T, NM_001288738.2:c.2390G>T, NM_001288738.1:c.2390G>T, NM_001288737.2:c.2390G>T, NM_001288737.1:c.2390G>T, NM_001288739.2:c.2390G>T, NM_001288739.1:c.2390G>T, NM_001374269.1:c.2390G>T, NP_004399.2:p.Gly797Val, NP_001005336.1:p.Gly797Val, NP_001275667.1:p.Gly797Val, NP_001275666.1:p.Gly797Val, NP_001275668.1:p.Gly797Val, NP_001361198.1:p.Gly797Val

Select item 14859836474.

rs1485983647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:128222247 (GRCh38)
9:130984526 (GRCh37)
Canonical SPDI:: NC_000009.12:128222246:G:T
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128222247G>T, NC_000009.11:g.130984526G>T, NG_029726.1:g.23864G>T, NM_004408.4:c.900G>T, NM_004408.3:c.900G>T, NM_004408.2:c.900G>T, NM_001005336.3:c.900G>T, NM_001005336.2:c.900G>T, NM_001005336.1:c.900G>T, NM_001288738.2:c.900G>T, NM_001288738.1:c.900G>T, NM_001288737.2:c.900G>T, NM_001288737.1:c.900G>T, NM_001288739.2:c.900G>T, NM_001288739.1:c.900G>T, NM_001374269.1:c.900G>T

Select item 14858919065.

rs1485891906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128219993 (GRCh38)
9:130982272 (GRCh37)
Canonical SPDI:: NC_000009.12:128219992:C:T
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000071/2 (TOMMO)
HGVS:: NC_000009.12:g.128219993C>T, NC_000009.11:g.130982272C>T, NG_029726.1:g.21610C>T, NM_004408.4:c.595C>T, NM_004408.3:c.595C>T, NM_004408.2:c.595C>T, NM_001005336.3:c.595C>T, NM_001005336.2:c.595C>T, NM_001005336.1:c.595C>T, NM_001288738.2:c.595C>T, NM_001288738.1:c.595C>T, NM_001288737.2:c.595C>T, NM_001288737.1:c.595C>T, NM_001288739.2:c.595C>T, NM_001288739.1:c.595C>T, NM_001374269.1:c.595C>T, NP_004399.2:p.Arg199Cys, NP_001005336.1:p.Arg199Cys, NP_001275667.1:p.Arg199Cys, NP_001275666.1:p.Arg199Cys, NP_001275668.1:p.Arg199Cys, NP_001361198.1:p.Arg199Cys

Select item 14840301856.

rs1484030185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:128220001 (GRCh38)
9:130982280 (GRCh37)
Canonical SPDI:: NC_000009.12:128220000:C:A,NC_000009.12:128220000:C:G,NC_000009.12:128220000:C:T
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.128220001C>A, NC_000009.12:g.128220001C>G, NC_000009.12:g.128220001C>T, NC_000009.11:g.130982280C>A, NC_000009.11:g.130982280C>G, NC_000009.11:g.130982280C>T, NG_029726.1:g.21618C>A, NG_029726.1:g.21618C>G, NG_029726.1:g.21618C>T, NM_004408.4:c.603C>A, NM_004408.4:c.603C>G, NM_004408.4:c.603C>T, NM_004408.3:c.603C>A, NM_004408.3:c.603C>G, NM_004408.3:c.603C>T, NM_004408.2:c.603C>A, NM_004408.2:c.603C>G, NM_004408.2:c.603C>T, NM_001005336.3:c.603C>A, NM_001005336.3:c.603C>G, NM_001005336.3:c.603C>T, NM_001005336.2:c.603C>A, NM_001005336.2:c.603C>G, NM_001005336.2:c.603C>T, NM_001005336.1:c.603C>A, NM_001005336.1:c.603C>G, NM_001005336.1:c.603C>T, NM_001288738.2:c.603C>A, NM_001288738.2:c.603C>G, NM_001288738.2:c.603C>T, NM_001288738.1:c.603C>A, NM_001288738.1:c.603C>G, NM_001288738.1:c.603C>T, NM_001288737.2:c.603C>A, NM_001288737.2:c.603C>G, NM_001288737.2:c.603C>T, NM_001288737.1:c.603C>A, NM_001288737.1:c.603C>G, NM_001288737.1:c.603C>T, NM_001288739.2:c.603C>A, NM_001288739.2:c.603C>G, NM_001288739.2:c.603C>T, NM_001288739.1:c.603C>A, NM_001288739.1:c.603C>G, NM_001288739.1:c.603C>T, NM_001374269.1:c.603C>A, NM_001374269.1:c.603C>G, NM_001374269.1:c.603C>T, NP_004399.2:p.Ile201Met, NP_001005336.1:p.Ile201Met, NP_001275667.1:p.Ile201Met, NP_001275666.1:p.Ile201Met, NP_001275668.1:p.Ile201Met, NP_001361198.1:p.Ile201Met

Select item 14799510297.

rs1479951029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128250356 (GRCh38)
9:131012635 (GRCh37)
Canonical SPDI:: NC_000009.12:128250355:G:A
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.128250356G>A, NC_000009.11:g.131012635G>A, NG_029726.1:g.51973G>A, NM_004408.4:c.2318G>A, NM_004408.3:c.2318G>A, NM_004408.2:c.2318G>A, NM_001005336.3:c.2318G>A, NM_001005336.2:c.2318G>A, NM_001005336.1:c.2318G>A, NM_001288738.2:c.2318G>A, NM_001288738.1:c.2318G>A, NM_001288737.2:c.2318G>A, NM_001288737.1:c.2318G>A, NM_001288739.2:c.2318G>A, NM_001288739.1:c.2318G>A, NM_001374269.1:c.2318G>A, NP_004399.2:p.Arg773Lys, NP_001005336.1:p.Arg773Lys, NP_001275667.1:p.Arg773Lys, NP_001275666.1:p.Arg773Lys, NP_001275668.1:p.Arg773Lys, NP_001361198.1:p.Arg773Lys

Select item 14799130878.

rs1479913087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128242306 (GRCh38)
9:131004585 (GRCh37)
Canonical SPDI:: NC_000009.12:128242305:G:A
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.128242306G>A, NC_000009.11:g.131004585G>A, NG_029726.1:g.43923G>A, NM_004408.4:c.1632G>A, NM_004408.3:c.1632G>A, NM_004408.2:c.1632G>A, NM_001005336.3:c.1632G>A, NM_001005336.2:c.1632G>A, NM_001005336.1:c.1632G>A, NM_001288738.2:c.1632G>A, NM_001288738.1:c.1632G>A, NM_001288737.2:c.1632G>A, NM_001288737.1:c.1632G>A, NM_001288739.2:c.1632G>A, NM_001288739.1:c.1632G>A, NM_001374269.1:c.1632G>A

Select item 14783908899.

rs1478390889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:128203572 (GRCh38)
9:130965851 (GRCh37)
Canonical SPDI:: NC_000009.12:128203571:C:A
Gene:: DNM1 (Varview), CIZ1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128203572C>A, NC_000009.11:g.130965851C>A, NG_029726.1:g.5189C>A, NM_004408.4:c.102C>A, NM_004408.3:c.102C>A, NM_004408.2:c.102C>A, NM_001005336.3:c.102C>A, NM_001005336.2:c.102C>A, NM_001005336.1:c.102C>A, NM_001288738.2:c.102C>A, NM_001288738.1:c.102C>A, NM_001288737.2:c.102C>A, NM_001288737.1:c.102C>A, NM_001288739.2:c.102C>A, NM_001288739.1:c.102C>A, NM_001374269.1:c.102C>A, NG_032983.1:g.5812G>T

Select item 147763727910.

rs1477637279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:128203527 (GRCh38)
9:130965806 (GRCh37)
Canonical SPDI:: NC_000009.12:128203526:C:G,NC_000009.12:128203526:C:T
Gene:: DNM1 (Varview), CIZ1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.128203527C>G, NC_000009.12:g.128203527C>T, NC_000009.11:g.130965806C>G, NC_000009.11:g.130965806C>T, NG_029726.1:g.5144C>G, NG_029726.1:g.5144C>T, NM_004408.4:c.57C>G, NM_004408.4:c.57C>T, NM_004408.3:c.57C>G, NM_004408.3:c.57C>T, NM_004408.2:c.57C>G, NM_004408.2:c.57C>T, NM_001005336.3:c.57C>G, NM_001005336.3:c.57C>T, NM_001005336.2:c.57C>G, NM_001005336.2:c.57C>T, NM_001005336.1:c.57C>G, NM_001005336.1:c.57C>T, NM_001288738.2:c.57C>G, NM_001288738.2:c.57C>T, NM_001288738.1:c.57C>G, NM_001288738.1:c.57C>T, NM_001288737.2:c.57C>G, NM_001288737.2:c.57C>T, NM_001288737.1:c.57C>G, NM_001288737.1:c.57C>T, NM_001288739.2:c.57C>G, NM_001288739.2:c.57C>T, NM_001288739.1:c.57C>G, NM_001288739.1:c.57C>T, NM_001374269.1:c.57C>G, NM_001374269.1:c.57C>T, NG_032983.1:g.5857G>C, NG_032983.1:g.5857G>A

Select item 147678026311.

rs1476780263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128218666 (GRCh38)
9:130980945 (GRCh37)
Canonical SPDI:: NC_000009.12:128218665:G:A
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.128218666G>A, NC_000009.11:g.130980945G>A, NG_029726.1:g.20283G>A, NM_004408.4:c.320G>A, NM_004408.3:c.320G>A, NM_004408.2:c.320G>A, NM_001005336.3:c.320G>A, NM_001005336.2:c.320G>A, NM_001005336.1:c.320G>A, NM_001288738.2:c.320G>A, NM_001288738.1:c.320G>A, NM_001288737.2:c.320G>A, NM_001288737.1:c.320G>A, NM_001288739.2:c.320G>A, NM_001288739.1:c.320G>A, NM_001374269.1:c.320G>A, NG_063133.1:g.17G>A, NP_004399.2:p.Arg107Lys, NP_001005336.1:p.Arg107Lys, NP_001275667.1:p.Arg107Lys, NP_001275666.1:p.Arg107Lys, NP_001275668.1:p.Arg107Lys, NP_001361198.1:p.Arg107Lys

Select item 147483517712.

rs1474835177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128250829 (GRCh38)
9:131013108 (GRCh37)
Canonical SPDI:: NC_000009.12:128250828:C:T
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.128250829C>T, NC_000009.11:g.131013108C>T, NG_029726.1:g.52446C>T, NM_004408.4:c.2423C>T, NM_004408.3:c.2423C>T, NM_004408.2:c.2423C>T, NM_001005336.3:c.2423C>T, NM_001005336.2:c.2423C>T, NM_001005336.1:c.2423C>T, NM_001288738.2:c.2423C>T, NM_001288738.1:c.2423C>T, NM_001288737.2:c.2423C>T, NM_001288737.1:c.2423C>T, NM_001288739.2:c.2423C>T, NM_001288739.1:c.2423C>T, NM_001374269.1:c.2423C>T, NP_004399.2:p.Ala808Val, NP_001005336.1:p.Ala808Val, NP_001275667.1:p.Ala808Val, NP_001275666.1:p.Ala808Val, NP_001275668.1:p.Ala808Val, NP_001361198.1:p.Ala808Val

Select item 147291710413.

rs1472917104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128239740 (GRCh38)
9:131002019 (GRCh37)
Canonical SPDI:: NC_000009.12:128239739:G:A
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128239740G>A, NC_000009.11:g.131002019G>A, NG_029726.1:g.41357G>A, NM_004408.4:c.1506G>A, NM_004408.3:c.1506G>A, NM_004408.2:c.1506G>A, NM_001005336.3:c.1506G>A, NM_001005336.2:c.1506G>A, NM_001005336.1:c.1506G>A, NM_001288738.2:c.1506G>A, NM_001288738.1:c.1506G>A, NM_001288737.2:c.1506G>A, NM_001288737.1:c.1506G>A, NM_001288739.2:c.1506G>A, NM_001288739.1:c.1506G>A, NM_001374269.1:c.1506G>A

Select item 147230874314.

rs1472308743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:128220315 (GRCh38)
9:130982594 (GRCh37)
Canonical SPDI:: NC_000009.12:128220314:C:A
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128220315C>A, NC_000009.11:g.130982594C>A, NG_029726.1:g.21932C>A, NM_004408.4:c.823C>A, NM_004408.3:c.823C>A, NM_004408.2:c.823C>A, NM_001005336.3:c.823C>A, NM_001005336.2:c.823C>A, NM_001005336.1:c.823C>A, NM_001288738.2:c.823C>A, NM_001288738.1:c.823C>A, NM_001288737.2:c.823C>A, NM_001288737.1:c.823C>A, NM_001288739.2:c.823C>A, NM_001288739.1:c.823C>A, NM_001374269.1:c.823C>A, NP_004399.2:p.Pro275Thr, NP_001005336.1:p.Pro275Thr, NP_001275667.1:p.Pro275Thr, NP_001275666.1:p.Pro275Thr, NP_001275668.1:p.Pro275Thr, NP_001361198.1:p.Pro275Thr

Select item 146547357815.

rs1465473578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128222794 (GRCh38)
9:130985073 (GRCh37)
Canonical SPDI:: NC_000009.12:128222793:T:C
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.128222794T>C, NC_000009.11:g.130985073T>C, NG_029726.1:g.24411T>C, NM_004408.4:c.1130T>C, NM_004408.3:c.1130T>C, NM_004408.2:c.1130T>C, NM_001005336.3:c.1130T>C, NM_001005336.2:c.1130T>C, NM_001005336.1:c.1130T>C, NM_001288738.2:c.1130T>C, NM_001288738.1:c.1130T>C, NM_001288737.2:c.1130T>C, NM_001288737.1:c.1130T>C, NM_001288739.2:c.1130T>C, NM_001288739.1:c.1130T>C, NM_001374269.1:c.1130T>C, NP_004399.2:p.Met377Thr, NP_001005336.1:p.Met377Thr, NP_001275667.1:p.Met377Thr, NP_001275666.1:p.Met377Thr, NP_001275668.1:p.Met377Thr, NP_001361198.1:p.Met377Thr

Select item 145977346816.

rs1459773468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128250911 (GRCh38)
9:131013190 (GRCh37)
Canonical SPDI:: NC_000009.12:128250910:C:T
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.128250911C>T, NC_000009.11:g.131013190C>T, NG_029726.1:g.52528C>T, NM_004408.4:c.2505C>T, NM_004408.3:c.2505C>T, NM_004408.2:c.2505C>T, NM_001005336.3:c.2505C>T, NM_001005336.2:c.2505C>T, NM_001005336.1:c.2505C>T, NM_001288738.2:c.2505C>T, NM_001288738.1:c.2505C>T, NM_001288737.2:c.2505C>T, NM_001288737.1:c.2505C>T, NM_001288739.2:c.2505C>T, NM_001288739.1:c.2505C>T, NM_001374269.1:c.2505C>T

Select item 145880727017.

rs1458807270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:128203567 (GRCh38)
9:130965846 (GRCh37)
Canonical SPDI:: NC_000009.12:128203566:C:G
Gene:: DNM1 (Varview), CIZ1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128203567C>G, NC_000009.11:g.130965846C>G, NG_029726.1:g.5184C>G, NM_004408.4:c.97C>G, NM_004408.3:c.97C>G, NM_004408.2:c.97C>G, NM_001005336.3:c.97C>G, NM_001005336.2:c.97C>G, NM_001005336.1:c.97C>G, NM_001288738.2:c.97C>G, NM_001288738.1:c.97C>G, NM_001288737.2:c.97C>G, NM_001288737.1:c.97C>G, NM_001288739.2:c.97C>G, NM_001288739.1:c.97C>G, NM_001374269.1:c.97C>G, NG_032983.1:g.5817G>C, NP_004399.2:p.Gln33Glu, NP_001005336.1:p.Gln33Glu, NP_001275667.1:p.Gln33Glu, NP_001275666.1:p.Gln33Glu, NP_001275668.1:p.Gln33Glu, NP_001361198.1:p.Gln33Glu

Select item 145723126518.

rs1457231265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128218673 (GRCh38)
9:130980952 (GRCh37)
Canonical SPDI:: NC_000009.12:128218672:C:T
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128218673C>T, NC_000009.11:g.130980952C>T, NG_029726.1:g.20290C>T, NM_004408.4:c.327C>T, NM_004408.3:c.327C>T, NM_004408.2:c.327C>T, NM_001005336.3:c.327C>T, NM_001005336.2:c.327C>T, NM_001005336.1:c.327C>T, NM_001288738.2:c.327C>T, NM_001288738.1:c.327C>T, NM_001288737.2:c.327C>T, NM_001288737.1:c.327C>T, NM_001288739.2:c.327C>T, NM_001288739.1:c.327C>T, NM_001374269.1:c.327C>T, NG_063133.1:g.24C>T

Select item 145673132219.

rs1456731322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:128220258 (GRCh38)
9:130982537 (GRCh37)
Canonical SPDI:: NC_000009.12:128220257:C:G,NC_000009.12:128220257:C:T
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128220258C>G, NC_000009.12:g.128220258C>T, NC_000009.11:g.130982537C>G, NC_000009.11:g.130982537C>T, NG_029726.1:g.21875C>G, NG_029726.1:g.21875C>T, NM_004408.4:c.766C>G, NM_004408.4:c.766C>T, NM_004408.3:c.766C>G, NM_004408.3:c.766C>T, NM_004408.2:c.766C>G, NM_004408.2:c.766C>T, NM_001005336.3:c.766C>G, NM_001005336.3:c.766C>T, NM_001005336.2:c.766C>G, NM_001005336.2:c.766C>T, NM_001005336.1:c.766C>G, NM_001005336.1:c.766C>T, NM_001288738.2:c.766C>G, NM_001288738.2:c.766C>T, NM_001288738.1:c.766C>G, NM_001288738.1:c.766C>T, NM_001288737.2:c.766C>G, NM_001288737.2:c.766C>T, NM_001288737.1:c.766C>G, NM_001288737.1:c.766C>T, NM_001288739.2:c.766C>G, NM_001288739.2:c.766C>T, NM_001288739.1:c.766C>G, NM_001288739.1:c.766C>T, NM_001374269.1:c.766C>G, NM_001374269.1:c.766C>T, NP_004399.2:p.Arg256Gly, NP_004399.2:p.Arg256Ter, NP_001005336.1:p.Arg256Gly, NP_001005336.1:p.Arg256Ter, NP_001275667.1:p.Arg256Gly, NP_001275667.1:p.Arg256Ter, NP_001275666.1:p.Arg256Gly, NP_001275666.1:p.Arg256Ter, NP_001275668.1:p.Arg256Gly, NP_001275668.1:p.Arg256Ter, NP_001361198.1:p.Arg256Gly, NP_001361198.1:p.Arg256Ter

Select item 145294855320.

rs1452948553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:128222279 (GRCh38)
9:130984558 (GRCh37)
Canonical SPDI:: NC_000009.12:128222278:T:C,NC_000009.12:128222278:T:G
Gene:: DNM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
G=0.0027/5 (Korea1K)
HGVS:: NC_000009.12:g.128222279T>C, NC_000009.12:g.128222279T>G, NC_000009.11:g.130984558T>C, NC_000009.11:g.130984558T>G, NG_029726.1:g.23896T>C, NG_029726.1:g.23896T>G, NM_004408.4:c.932T>C, NM_004408.4:c.932T>G, NM_004408.3:c.932T>C, NM_004408.3:c.932T>G, NM_004408.2:c.932T>C, NM_004408.2:c.932T>G, NM_001005336.3:c.932T>C, NM_001005336.3:c.932T>G, NM_001005336.2:c.932T>C, NM_001005336.2:c.932T>G, NM_001005336.1:c.932T>C, NM_001005336.1:c.932T>G, NM_001288738.2:c.932T>C, NM_001288738.2:c.932T>G, NM_001288738.1:c.932T>C, NM_001288738.1:c.932T>G, NM_001288737.2:c.932T>C, NM_001288737.2:c.932T>G, NM_001288737.1:c.932T>C, NM_001288737.1:c.932T>G, NM_001288739.2:c.932T>C, NM_001288739.2:c.932T>G, NM_001288739.1:c.932T>C, NM_001288739.1:c.932T>G, NM_001374269.1:c.932T>C, NM_001374269.1:c.932T>G, NP_004399.2:p.Val311Ala, NP_004399.2:p.Val311Gly, NP_001005336.1:p.Val311Ala, NP_001005336.1:p.Val311Gly, NP_001275667.1:p.Val311Ala, NP_001275667.1:p.Val311Gly, NP_001275666.1:p.Val311Ala, NP_001275666.1:p.Val311Gly, NP_001275668.1:p.Val311Ala, NP_001275668.1:p.Val311Gly, NP_001361198.1:p.Val311Ala, NP_001361198.1:p.Val311Gly

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Result Filters

Clinical Significance

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Items: 1 to 20 of 637

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