chr11:71442319:T>A Detail (hg38) (DHCR7)

Information

Genome

Assembly Position
hg19 chr11:71,153,365-71,153,365 View the variant detail on this assembly version.
hg38 chr11:71,442,319-71,442,319

HGVS

Type Transcript Protein
RefSeq NM_001163817.1:c.356A>T NP_001157289.1:p.His119Leu
NM_001360.2:c.356A>T NP_001351.2:p.His119Leu
Ensemble ENST00000355527.8:c.356A>T ENST00000355527.8:p.His119Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv43107611 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-09-02 criteria provided, multiple submitters, no conflicts Smith-Lemli-Opitz syndrome germline unknown Detail
Pathogenic 2016-09-22 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.610 Smith-Lemli-Opitz syndrome NA CLINVAR Detail
0.610 Smith-Lemli-Opitz syndrome Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with S... UNIPROT 11427181 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) AND Smith-Lemli-Opitz syndrome ClinVar Detail
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) AND not provided ClinVar Detail
NA DisGeNET Detail
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz s... 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
rs28938174 dbSNP
Genome
hg38
Position
chr11:71,442,319-71,442,319
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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))
rs28938174
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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