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NM_001089.3(ABCA3):c.613G>A (p.Gly205Arg)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Nov 16, 2013)
Accession:
VCV000088779.1
Variation ID:
88779
Description:
single nucleotide variant
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NM_001089.3(ABCA3):c.613G>A (p.Gly205Arg)

Allele ID
94362
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2323523 (GRCh38) GRCh38 UCSC
16: 2373524 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2323523C>T
NC_000016.9:g.2373524C>T
NM_001089.3:c.613G>A MANE Select NP_001080.2:p.Gly205Arg missense
NG_011790.1:g.22224G>A
Protein change
G205R
Other names
-
Canonical SPDI
NC_000016.10:2323522:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA220100
dbSNP: rs397518426
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000074421.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCA3 - - GRCh38
GRCh37
364 402

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
untested
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Cole and Hamvas Lab, Washington University - St. Louis
Accession: SCV000106035.1
Submitted: (Nov 16, 2013)
Comment:
Han Chinese
Evidence details
Comment:
Converted during submission to not provided.

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 rs397518426...

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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 27, 2019