chr3:121696873:T>C Detail (hg38) (GOLGB1)

Information

Genome

Assembly Position
hg19 chr3:121,415,720-121,415,720 View the variant detail on this assembly version.
hg38 chr3:121,696,873-121,696,873

HGVS

Type Transcript Protein
RefSeq NM_001256487.1:c.3635A>G NP_001243416.1:p.Tyr1212Cys
NM_004487.4:c.3635A>G NP_004478.3:p.Tyr1212Cys
NM_001256486.1:c.3650A>G NP_001243415.1:p.Tyr1217Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.372
ToMMo:0.352
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.461

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602500 OMIM
HGNC 4429 HGNC
Ensembl ENSG00000173230 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv13981317 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cerebrovascular accident One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confi... BeFree 23422753 Detail
<0.001 Cerebrovascular accident One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confi... BeFree 23422753 Detail
Annotation

Annotations

DescrptionSourceLinks
One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having signi... DisGeNET Detail
One mutation in GOLGB1 (Y1212C) and another mutation in ENPP1 (K173Q) were confirmed as having signi... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr3:121,696,873-121,696,873
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
98.65
Standard deviation of sample read depth (HGVD)
50.19
Number of reference allele (HGVD)
1520
Number of alternative allele (HGVD)
900
Allele Frequency (HGVD)
0.371900826446281
Gene Symbol (HGVD)
GOLGB1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3732410
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3521
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5901
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
3990
East Asian Heterozygous Counts (ExAC)
2120
East Asian Homozygous Counts (ExAC)
935
East Asian Allele Frequency (ExAC)
0.4614850798056905
Chromosome Counts in All Race (ExAC)
121376
Allele Counts in All Race (ExAC)
28045
Heterozygous Counts in All Race (ExAC)
20569
Homozygous Counts in All Race (ExAC)
3738
Allele Frequency in All Race (ExAC)
0.23105885842341153
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