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Variant : CV507815 (NM_006280.3(SSR4):c.351+19C>T) Homo sapiens

Symbol: CV507815
Name: NM_006280.3(SSR4):c.351+19C>T
Condition: not specified [RCV000616441]
Clinical Significance: likely benign
Last Evaluated: 10/06/2017
Review Status: criteria provided, single submitter
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001204526.1:c.384+19C>T
NG_041795.1:g.8659C>T
NC_000023.11:g.153797833C>T
NC_000023.10:g.153063288C>T
NM_006280.3:c.351+19C>T
NM_001204527.2:c.375+19C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,797,833 - 153,797,833CLINVAR
GRCh37X153,063,288 - 153,063,288CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13541643
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.