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Variant : CV274635 (NM_000390.4(CHM):c.1244+8T>A) Homo sapiens

Symbol: CV274635
Name: NM_000390.4(CHM):c.1244+8T>A
Condition: not specified [RCV000389318]
Clinical Significance: uncertain significance
Last Evaluated: 08/15/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.141310T>A
NG_009874.2:g.141310T>A
NC_000023.11:g.85911253A>T
NC_000023.10:g.85166258A>T
NM_001362518.2:c.800+8T>A
NM_001362519.1:c.800+8T>A
NM_000390.4:c.1244+8T>A
NM_001320959.1:c.800+8T>A
NM_001362517.1:c.800+8T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,911,253 - 85,911,253CLINVAR
GRCh37X85,166,258 - 85,166,258CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11643193
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.