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Variant : CV623788 (NM_001110556.2(FLNA):c.1829-1G>C) Homo sapiens

Symbol: CV623788
Name: NM_001110556.2(FLNA):c.1829-1G>C
Condition: Cardiac valvular dysplasia, X-linked [RCV000787477]|Ehlers-Danlos syndrome, type 5 [RCV000787477]
Clinical Significance: pathogenic
Last Evaluated: 07/17/2019
Review Status: no assertion criteria provided
Related Genes: FLNA  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Nucleotide Change: ivs12as, g-c, -1
Evidence: literature only
HGVS Name(s): NM_001110556.2:c.1829-1G>C
NM_001456.3:c.1829-1G>C
NG_011506.2:g.14919G>C
NC_000023.11:g.154364720C>G
NC_000023.10:g.153593088C>G
NG_011506.1:g.14919G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,364,720 - 154,364,720CLINVAR
GRCh37X153,593,088 - 153,593,088CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: Cardiac valvular dysplasia, X-linked; EDS V; EHLERS-DANLOS SYNDROME, TYPE V



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14698339
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-02-11
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.