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Variant : CV490940 (NM_000390.4(CHM):c.1771-8T>C) Homo sapiens

Symbol: CV490940
Name: NM_000390.4(CHM):c.1771-8T>C
Condition: not specified [RCV000592998]
Clinical Significance: uncertain significance
Last Evaluated: 01/12/2017
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): NM_001362517.1:c.1327-8T>C
NM_001362518.2:c.1327-8T>C
NM_001362519.1:c.1327-8T>C
LRG_699:g.187734T>C
NG_009874.2:g.187734T>C
NC_000023.11:g.85864829A>G
NC_000023.10:g.85119834A>G
NM_001320959.1:c.1327-8T>C
NM_000390.4:c.1771-8T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,864,829 - 85,864,829CLINVAR
GRCh37X85,119,834 - 85,119,834CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13523444
Created: 2018-04-10
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.