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NM_001271643.1(THADA):c.362G>A (p.Arg121His)

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 17, 2015)
Last evaluated:
Oct 31, 2014
Accession:
VCV000208951.1
Variation ID:
208951
Description:
single nucleotide variant
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NM_001271643.1(THADA):c.362G>A (p.Arg121His)

Allele ID
205427
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 43586943 (GRCh38) GRCh38 UCSC
2: 43814082 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.43586943C>T
NC_000002.11:g.43814082C>T
NM_001271643.1:c.362G>A NP_001258572.1:p.Arg121His
... more HGVS
Protein change
R121H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD) 0.00016
Links
dbSNP: rs769958179
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 no assertion criteria provided Oct 31, 2014 RCV000201356.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
THADA - - GRCh38
GRCh37
8 24

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 31, 2014)
no assertion criteria provided
Method: clinical testing
Malformation of Cortical Development
Allele origin: maternal
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire
Accession: SCV000240001.1
Submitted: (Jul 17, 2015)
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