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Variant : CV226973 (NM_003721.4(RFXANK):c.438+1G>T) Homo sapiens

Symbol: CV226973
Name: NM_003721.4(RFXANK):c.438+1G>T
Condition: Inborn genetic diseases [RCV000210620]
Clinical Significance: pathogenic
Last Evaluated: 05/24/2013
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: RFXANK  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): LRG_102:g.10424G>T
NG_007432.1:g.10424G>T
NC_000019.10:g.19197622G>T
NC_000019.9:g.19308431G>T
NM_003721.2:c.438+1G>T
LRG_102t1:c.438+1G>T
NM_001278728.1:c.369+1G>T
NM_134440.2:c.369+1G>T
NM_001278727.1:c.372+1G>T
NM_001370234.1:c.372+1G>T
NM_001370235.1:c.435+1G>T
NM_001370236.1:c.435+1G>T
NM_001370237.1:c.435+1G>T
NM_001370233.1:c.438+1G>T
NM_001370238.1:c.438+1G>T
NM_003721.4:c.438+1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381919,197,622 - 19,197,622CLINVAR
GRCh371919,308,431 - 19,308,431CLINVAR
Cytogenetic Map1919p13.11CLINVAR



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11060010
Created: 2016-04-19
Species: Homo sapiens
Last Modified: 2020-09-22
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.