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Variant : CV265069 (NM_000390.3(CHM):c.315_318delTCAG (p.Ser105Argfs)) Homo sapiens

Symbol: CV265069
Name: NM_000390.3(CHM):c.315_318delTCAG (p.Ser105Argfs)
Condition: not provided [RCV000319155]
Clinical Significance: pathogenic
Last Evaluated: 12/13/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_000390.2:c.315_318delTCAG
LRG_699t1:c.315_318del
NC_000023.11:g.85964049_85964052del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,964,049 - 85,964,052CLINVAR
GRCh37X85,219,054 - 85,219,057CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633205
Created: 2017-01-11
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.