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NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 1, 1999
Accession:
VCV000009483.1
Variation ID:
9483
Description:
single nucleotide variant
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NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)

Allele ID
24522
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q31.1
Genomic location
9: 104806276 (GRCh38) GRCh38 UCSC
9: 107568557 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.107568557A>G
NC_000009.12:g.104806276A>G
NM_005502.4:c.4429T>C NP_005493.2:p.Cys1477Arg missense
... more HGVS
Protein change
C1417R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: O95477#VAR_009153
OMIM: 600046.0001
dbSNP: rs137854494
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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 Aug 1, 1999 RCV000010091.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCA1 - - GRCh38
GRCh37
209 248

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 01, 1999)
no assertion criteria provided
Method: literature only
TANGIER DISEASE
Allele origin: germline
OMIM
Accession: SCV000030312.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Brooks-Wilson A Nature genetics 1999 PMID: 10431236

Record last updated Aug 29, 2019