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Variant : CV411159 (NM_001204526.1(SSR4):c.385-12_385-2dupCCTCCCTTGCA) Homo sapiens

Symbol: CV411159
Name: NM_001204526.1(SSR4):c.385-12_385-2dupCCTCCCTTGCA
Condition: not specified [RCV000481587]
Clinical Significance: likely benign
Last Evaluated: 12/13/2016
Review Status: criteria provided, single submitter
Related Genes: SSR4  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.153798059_153798069dup
NM_001204526.1:c.385-12_385-2dupCCTCCCTTGCA
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,798,059 - 153,798,069CLINVAR
GRCh37X153,063,514 - 153,063,524CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12900067
Created: 2017-05-09
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.