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Variant : CV446543 (NM_001204527.2(SSR4):c.166G>A (p.Val56Ile)) Homo sapiens

Symbol: CV446543
Name: NM_001204527.2(SSR4):c.166G>A (p.Val56Ile)
Condition: not specified [RCV000522154]
Clinical Significance: uncertain significance
Last Evaluated: 09/11/2017
Review Status: criteria provided, single submitter
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.153796508G>A
NG_041795.1:g.7334G>A
NC_000023.10:g.153061963G>A
NM_001204526.1:c.175G>A
NP_001191456.1:p.Val56Ile
NP_001191455.1:p.Val59Ile
NM_006280.3:c.142G>A
NM_001204527.2:c.166G>A
NR_037927.1:n.487G>A
NP_006271.1:p.Val48Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,796,508 - 153,796,508CLINVAR
GRCh37X153,061,963 - 153,061,963CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13483799
Created: 2018-01-09
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.