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Variant : CV446802 (NM_000390.4(CHM):c.1609+2T>A) Homo sapiens

Symbol: CV446802
Name: NM_000390.4(CHM):c.1609+2T>A
Condition: not provided [RCV000520979]
Clinical Significance: pathogenic
Last Evaluated: 01/15/2016
Review Status: criteria provided, single submitter
Related Genes: CHM  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): LRG_699:g.173600T>A
NG_009874.2:g.173600T>A
NC_000023.11:g.85878963A>T
NC_000023.10:g.85133968A>T
NM_001362518.2:c.1165+2T>A
LRG_699t1:c.1609+2T>A
NM_001320959.1:c.1165+2T>A
NM_001362517.1:c.1165+2T>A
NM_001362519.1:c.1165+2T>A
NM_000390.4:c.1609+2T>A
NM_000390.2:c.1609+2T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,878,963 - 85,878,963CLINVAR
GRCh37X85,133,968 - 85,133,968CLINVAR
Cytogenetic MapXXq21.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13479527
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.