chr11:71438966:C>A Detail (hg38) (DHCR7)

Information

Genome

Assembly Position
hg19 chr11:71,150,012-71,150,012 View the variant detail on this assembly version.
hg38 chr11:71,438,966-71,438,966

HGVS

Type Transcript Protein
RefSeq NM_001163817.1:c.744G>T NP_001157289.1:p.Trp248Cys
NM_001360.2:c.744G>T NP_001351.2:p.Trp248Cys
Ensemble ENST00000355527.8:c.744G>T ENST00000355527.8:p.Trp248Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2000-02-14 no assertion criteria provided Smith-Lemli-Opitz syndrome 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.744G>T (p.Trp248Cys) AND Smith-Lemli-Opitz syndrome 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
rs104894212 dbSNP
Genome
hg38
Position
chr11:71,438,966-71,438,966
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser