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NM_001360.3(DHCR7):c.1A>C (p.Met1Leu)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 2, 2019)
Accession:
VCV000694691.1
Variation ID:
694691
Description:
single nucleotide variant
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NM_001360.3(DHCR7):c.1A>C (p.Met1Leu)

Allele ID
682818
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 71444952 (GRCh38) GRCh38 UCSC
11: 71155998 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.71444952T>G
NC_000011.9:g.71155998T>G
NG_012655.2:g.8480A>C
... more HGVS
Protein change
M1L
Other names
-
Canonical SPDI
NC_000011.10:71444951:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs104886033
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter - RCV000856756.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DHCR7 - - GRCh38
GRCh37
493 505

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Smith-Lemli-Opitz syndrome
Allele origin: unknown
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
Accession: SCV000999306.1
Submitted: (Jun 02, 2019)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs104886033...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021