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NM_000190.4(HMBS):c.583C>T (p.Arg195Cys)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 28, 2014)
Last evaluated:
Jun 1, 2014
Accession:
VCV000161251.1
Variation ID:
161251
Description:
single nucleotide variant
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NM_000190.4(HMBS):c.583C>T (p.Arg195Cys)

Allele ID
171129
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119091497 (GRCh38) GRCh38 UCSC
11: 118962207 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.119091497C>T
NC_000011.9:g.118962207C>T
NM_000190.4:c.583C>T NP_000181.2:p.Arg195Cys missense
... more HGVS
Protein change
R178C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00009
Links
UniProtKB: P08397#VAR_003656
dbSNP: rs34413634
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Jun 1, 2014 RCV000148509.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HMBS - - GRCh38
GRCh38
GRCh37
90 123

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 01, 2014)
no assertion criteria provided
Method: research
Porphyria, acute intermittent
(Autosomal dominant inheritance)
Allele origin: germline
CSER_CC_NCGL; University of Washington Medical Center
Study: ESP 6500 variant annotation
Accession: SCV000190220.1
Submitted: (Aug 28, 2014)
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
Evidence details

Citations for this variant

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

Record last updated Mar 29, 2019