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Variant : CV424354 (NM_005933.4(KMT2A):c.5794-1G>A) Homo sapiens

Symbol: CV424354
Name: NM_005933.4(KMT2A):c.5794-1G>A
Condition: Kabuki syndrome 1 [RCV000578141]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: KMT2A  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: research
HGVS Name(s): LRG_613t1:c.5803-1G>A
NM_001197104.1:c.5803-1G>A
NG_027813.1:g.66880G>A
NC_000011.10:g.118498369G>A
NC_000011.9:g.118369084G>A
LRG_613:g.66880G>A
NM_005933.4:c.5794-1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,498,369 - 118,498,369CLINVAR
GRCh3711118,369,084 - 118,369,084CLINVAR
Cytogenetic Map1111q23.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13509426
Created: 2018-03-06
Species: Homo sapiens
Last Modified: 2020-09-29
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.