chr1:1232735:C>A Detail (hg38) (B3GALT6)

Information

Genome

Assembly Position
hg19 chr1:1,168,115-1,168,115 View the variant detail on this assembly version.
hg38 chr1:1,232,735-1,232,735

HGVS

Type Transcript Protein
RefSeq NM_080605.3:c.457C>A NP_542172.2:p.Leu153Ile
Ensemble ENST00000379198.5:c.457C>A ENST00000379198.5:p.Leu153Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 615291 OMIM
HGNC 17978 HGNC
Ensembl ENSG00000176022 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv296410623 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-18 criteria provided, single submitter spondyloepimetaphyseal dysplasia with joint laxity,Ehlers-Danlos syndrome, spondylodysplastic type, 2 germline Detail
Benign 2024-01-18 criteria provided, single submitter spondyloepimetaphyseal dysplasia with joint laxity,Ehlers-Danlos syndrome, spondylodysplastic type, 2 germline Detail
Benign 2020-07-20 criteria provided, single submitter not provided germline Detail
Benign 2019-08-03 criteria provided, single submitter B3GALT6-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND multiple conditions ClinVar Detail
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND multiple conditions ClinVar Detail
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND not provided ClinVar Detail
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) AND B3GALT6-related disorder ClinVar 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
-
dbSNP
rs142820961 dbSNP
Genome
hg38
Position
chr1:1,232,735-1,232,735
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
7920
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
102556
Allele Counts in All Race (ExAC)
102
Heterozygous Counts in All Race (ExAC)
100
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
9.945785717071648E-4
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