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Variant : CV623789 (NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)) Homo sapiens

Symbol: CV623789
Name: NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)
Condition: Cardiac valvular dysplasia, X-linked [RCV000787478]|Ehlers-Danlos syndrome, type 5 [RCV000787478]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 07/17/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: FLNA  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NP_001447.2:p.Gly1554Arg
NG_011506.2:g.21345G>A
NM_001110556.2:c.4660G>A
NC_000023.11:g.154358294C>T
NC_000023.10:g.153586662C>T
NM_001110556.1:c.4660G>A
NP_001104026.1:p.Gly1554Arg
NM_001456.3:c.4660G>A
NG_011506.1:g.21345G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,358,294 - 154,358,294CLINVAR
GRCh37X153,586,662 - 153,586,662CLINVAR
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: 14698432
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.