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Variant : CV195885 (NM_000390.4(CHM):c.957A>G (p.Thr319=)) Homo sapiens

Symbol: CV195885
Name: NM_000390.4(CHM):c.957A>G (p.Thr319=)
Condition: not specified [RCV000180152]
Clinical Significance: uncertain significance
Last Evaluated: 12/30/2014
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001362517.1:c.513A>G
NM_001362518.2:c.513A>G
NM_001362519.1:c.513A>G
NP_001349446.1:p.Thr171=
NP_001349447.1:p.Thr171=
NP_001349448.1:p.Thr171=
NP_001307888.1:p.Thr171=
NM_001320959.1:c.513A>G
NM_000390.4:c.957A>G
NG_009874.2:g.96201A>G
NC_000023.11:g.85956362T>C
NC_000023.10:g.85211367T>C
NP_000381.1:p.Thr319=
LRG_699:g.96201A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,956,362 - 85,956,362CLINVAR
GRCh37X85,211,367 - 85,211,367CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10053166
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.