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NM_001377265.1(MAPT):c.1954A>G (p.Ile652Val)

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Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1
First in ClinVar:
Feb 20, 2014
Most recent Submission:
Feb 20, 2014
Accession:
VCV000098210.1
Variation ID:
98210
Description:
single nucleotide variant
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NM_001377265.1(MAPT):c.1954A>G (p.Ile652Val)

Allele ID
104102
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 45996620 (GRCh38) GRCh38 UCSC
17: 44073986 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001377265.1:c.1954A>G MANE Select NP_001364194.1:p.Ile652Val missense
NM_001123066.4:c.1783A>G NP_001116538.2:p.Ile595Val missense
NM_001123067.4:c.691A>G NP_001116539.1:p.Ile231Val missense
... more HGVS
Protein change
I577V, I202V, I231V, I260V, I595V, I586V, I652V
Other names
-
Canonical SPDI
NC_000017.11:45996619:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA225415
dbSNP: rs63751249
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 - RCV000084516.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAPT No evidence available No evidence available GRCh38
GRCh38
GRCh38
GRCh37
385 506

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
not provided
(-)
no assertion provided
Method: not provided
not provided
Affected status: not provided
Allele origin: not provided
VIB Department of Molecular Genetics, University of Antwerp
Accession: SCV000116652.1
First in ClinVar: Feb 20, 2014
Last updated: Feb 20, 2014
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg18&id=ADM_175

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 rs63751249...

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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 Apr 24, 2022