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Variant : CV508376 (NM_001204527.2(SSR4):c.11-133A>C) Homo sapiens

Symbol: CV508376
Name: NM_001204527.2(SSR4):c.11-133A>C
Condition: not specified [RCV000600926]
Clinical Significance: benign
Last Evaluated: 07/07/2017
Review Status: criteria provided, single submitter
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|intron variant
Evidence: clinical testing
HGVS Name(s): NM_001204526.1:c.-26A>C
NC_000023.11:g.153794541A>C
NC_000023.10:g.153059996A>C
NG_041795.1:g.5367A>C
NM_001204527.2:c.11-133A>C
NR_037927.1:n.93A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,794,541 - 153,794,541CLINVAR
GRCh37X153,059,996 - 153,059,996CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13531059
Created: 2018-05-08
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.