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Variant : CV446801 (NM_000390.4(CHM):c.1771-1G>A) Homo sapiens

Symbol: CV446801
Name: NM_000390.4(CHM):c.1771-1G>A
Condition: not provided [RCV000522740]
Clinical Significance: pathogenic
Last Evaluated: 12/17/2015
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.85864822C>T
NC_000023.10:g.85119827C>T
LRG_699:g.187741G>A
NG_009874.2:g.187741G>A
LRG_699t1:c.1771-1G>A
NM_001320959.1:c.1327-1G>A
NM_001362517.1:c.1327-1G>A
NM_001362518.2:c.1327-1G>A
NM_001362519.1:c.1327-1G>A
NM_000390.4:c.1771-1G>A
NM_000390.2:c.1771-1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,864,822 - 85,864,822CLINVAR
GRCh37X85,119,827 - 85,119,827CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13485910
Created: 2018-01-09
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.