chr11:71146886:C>G Detail (hg19) (DHCR7)

Information

Genome

Assembly Position
hg19 chr11:71,146,886-71,146,886
hg38 chr11:71,435,840-71,435,840 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001163817.1:c.964-1G>C
NM_001360.2:c.964-1G>C
Ensemble ENST00000683287.1:c.1000-1G>C
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 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2024-05-06 criteria provided, multiple submitters, no conflicts Smith-Lemli-Opitz syndrome germline inherited maternal paternal unknown Detail
Pathogenic 2021-08-20 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2020-02-06 criteria provided, single submitter Global developmental delay germline Detail
Pathogenic 2023-10-17 criteria provided, multiple submitters, no conflicts germline unknown Detail
Pathogenic 2024-02-08 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.964-1G>C AND not provided ClinVar Detail
NM_001360.3(DHCR7):c.964-1G>C AND Smith-Lemli-Opitz syndrome ClinVar Detail
NM_001360.3(DHCR7):c.964-1G>C AND Inborn genetic diseases ClinVar Detail
NM_001360.3(DHCR7):c.964-1G>C AND Global developmental delay ClinVar Detail
NM_001360.3(DHCR7):c.964-1G>C AND See cases ClinVar Detail
NM_001360.3(DHCR7):c.964-1G>C AND DHCR7-related disorder ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs138659167 dbSNP
Genome
hg19
Position
chr11:71,146,886-71,146,886
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
6818
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)
92002
Allele Counts in All Race (ExAC)
386
Heterozygous Counts in All Race (ExAC)
386
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.004195560966065955
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