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NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 1993
Accession:
VCV000001472.1
Variation ID:
1472
Description:
single nucleotide variant
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NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)

Allele ID
16511
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119092506 (GRCh38) GRCh38 UCSC
11: 118963216 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.118963216G>A
NC_000011.10:g.119092506G>A
NM_001258208.1:c.652-252G>A
... more HGVS
Protein change
A252T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs118204113
UniProtKB: P08397#VAR_003667
OMIM: 609806.0032
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 1993 RCV000001537.3
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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
Pathogenic
(Dec 01, 1993)
no assertion criteria provided
Method: literature only
PORPHYRIA, ACUTE INTERMITTENT
Allele origin: germline
OMIM
Accession: SCV000021692.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. Mgone CS Human genetics 1993 PMID: 8262523

Record last updated Mar 29, 2019