chr11:71444952:T>C Detail (hg38) (DHCR7)

Information

Genome

Assembly Position
hg19 chr11:71,155,998-71,155,998 View the variant detail on this assembly version.
hg38 chr11:71,444,952-71,444,952

HGVS

Type Transcript Protein
RefSeq NM_001163817.1:c.1A>G NP_001157289.1:p.?
NM_001360.2:c.1A>G NP_001351.2:p.?
Ensemble ENST00000355527.8:c.1A>G ENST00000355527.8:p.?
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 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 Likely pathogenic 2024-03-14 criteria provided, multiple submitters, no conflicts Smith-Lemli-Opitz syndrome germline unknown Detail
Pathogenic Likely pathogenic 2023-11-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2020-06-01 criteria provided, single submitter Inborn genetic diseases germline Detail
Likely pathogenic 2023-05-15 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.1A>G (p.Met1Val) AND Smith-Lemli-Opitz syndrome ClinVar Detail
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) AND not provided ClinVar Detail
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) AND Inborn genetic diseases ClinVar Detail
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) 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
rs104886033 dbSNP
Genome
hg38
Position
chr11:71,444,952-71,444,952
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
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)
121390
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4713732597413298E-5
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