chr11:71148982:T>C Detail (hg19) (DHCR7)

Information

Genome

Assembly Position
hg19 chr11:71,148,982-71,148,982
hg38 chr11:71,437,936-71,437,936 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001163817.1:c.839A>G NP_001157289.1:p.Tyr280Cys
NM_001360.2:c.839A>G NP_001351.2:p.Tyr280Cys
Ensemble ENST00000683714.1:c.839A>G ENST00000683714.1:p.Tyr280Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602858 OMIM
HGNC 2860 HGNC
Ensembl ENSG00000172893 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-12-21 criteria provided, single submitter Smith-Lemli-Opitz syndrome germline Detail
Likely pathogenic 2023-01-12 criteria provided, single submitter DHCR7-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.610 Smith-Lemli-Opitz syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) AND Smith-Lemli-Opitz syndrome ClinVar Detail
NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) AND DHCR7-related disorder ClinVar Detail
NA 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
-
dbSNP
rs121909766 dbSNP
Genome
hg19
Position
chr11:71,148,982-71,148,982
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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