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Variant : CV378679 (NM_000390.4(CHM):c.315-4441G>C) Homo sapiens

Symbol: CV378679
Name: NM_000390.4(CHM):c.315-4441G>C
Condition: not specified [RCV000426695]
Clinical Significance: likely benign
Last Evaluated: 10/06/2016
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.84070G>C
NG_009874.2:g.84070G>C
NC_000023.11:g.85968493C>G
NC_000023.10:g.85223498C>G
NM_000390.2:c.315-4441G>C
NM_001362518.2:c.-126-4445G>C
NM_001362519.1:c.-126-4445G>C
LRG_699t1:c.315-4441G>C
NM_001320959.1:c.-130-4441G>C
NM_001362517.1:c.-130-4441G>C
NM_000390.4:c.315-4441G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X85,968,493 - 85,968,493CLINVAR
GRCh37X85,223,498 - 85,223,498CLINVAR
Cytogenetic MapXXq21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12838287
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-09-06
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.