ClinVar Genomic variation as it relates to human health
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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:
- VCV000098232.1
- Variation ID:
- 98232
- Description:
- single nucleotide variant
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NM_001377265.1(MAPT):c.2341G>C (p.Gly781Arg)
- Allele ID
- 104124
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46024010 (GRCh38) GRCh38 UCSC
- 17: 44101376 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001377265.1:c.2341G>C MANE Select NP_001364194.1:p.Gly781Arg missense NM_001123066.4:c.2170G>C NP_001116538.2:p.Gly724Arg missense NM_001123067.4:c.1078G>C NP_001116539.1:p.Gly360Arg missense NM_001203251.2:c.985G>C NP_001190180.1:p.Gly329Arg missense NM_001203252.2:c.1072G>C NP_001190181.1:p.Gly358Arg missense NM_001377266.1:c.2050G>C NP_001364195.1:p.Gly684Arg missense NM_001377267.1:c.772-1107G>C NM_001377268.1:c.898G>C NP_001364197.1:p.Gly300Arg missense NM_005910.6:c.1165G>C NP_005901.2:p.Gly389Arg missense NM_016834.5:c.991G>C NP_058518.1:p.Gly331Arg missense NM_016835.5:c.2116G>C NP_058519.3:p.Gly706Arg missense NM_016841.5:c.898G>C NP_058525.1:p.Gly300Arg missense NR_165166.1:n.996G>C NC_000017.11:g.46024010G>C NC_000017.10:g.44101376G>C NG_007398.1:g.134598G>C NG_007398.2:g.134548G>C LRG_660:g.134548G>C LRG_660t1:c.2116G>C LRG_660p1:p.Gly706Arg LRG_660t2:c.2341G>C LRG_660p2:p.Gly781Arg P10636:p.Gly706Arg - Protein change
- G706R, G300R, G358R, G360R, G329R, G331R, G389R, G724R, G684R, G781R
- Other names
- -
- Canonical SPDI
- NC_000017.11:46024009:G:C
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA225494
- UniProtKB: P10636#VAR_010352
- dbSNP: rs63750512
- 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 | - | RCV000084553.1 |
Submitted interpretations and evidence
Help| 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: SCV000116689.1
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_193
|
|
Functional evidence
Help| 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
Help| 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 rs63750512...
HelpThese 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 25, 2022