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NM_000190.4(HMBS):c.518G>A (p.Arg173Gln)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 1, 1992
Accession:
VCV000001447.1
Variation ID:
1447
Description:
single nucleotide variant
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NM_000190.4(HMBS):c.518G>A (p.Arg173Gln)

Allele ID
16486
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119091432 (GRCh38) GRCh38 UCSC
11: 118962142 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.118962142G>A
NC_000011.10:g.119091432G>A
LRG_1076t1:c.518G>A LRG_1076p1:p.Arg173Gln
... more HGVS
Protein change
R173Q
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: P08397#VAR_003653
OMIM: 609806.0006
dbSNP: rs118204096
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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 Jan 1, 1992 RCV000001512.2
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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
(Jan 01, 1992)
no assertion criteria provided
Method: literature only
PORPHYRIA, ACUTE INTERMITTENT
Allele origin: germline
OMIM
Accession: SCV000021667.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
CRIM-positive mutations of acute intermittent porphyria in Finland. Kauppinen R Human mutation 1992 PMID: 1301948
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. Delfau MH The Journal of clinical investigation 1990 PMID: 2243128

Record last updated Mar 29, 2019