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Variant : CV539110 (NM_001110556.2(FLNA):c.546G>C (p.Gln182His)) Homo sapiens

Symbol: CV539110
Name: NM_001110556.2(FLNA):c.546G>C (p.Gln182His)
Condition: Cardiac valvular dysplasia, X-linked [RCV000661984]|Ehlers-Danlos syndrome, type 5 [RCV000661984]|FG syndrome 2 [RCV000661985]|Frontometaphyseal dysplasia [RCV000661986]|Melnick-Needles syndrome [RCV000661988]|Periventricular nodular heterotopia 1 [RCV000661987]|Terminal osseous dysplasia [RCV000661989]
Clinical Significance: uncertain significance
Last Evaluated: 03/05/2018
Review Status: criteria provided, single submitter
Related Genes: FLNA  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001110556.2:c.546G>C
NG_011506.2:g.11721G>C
NM_001456.3:c.546G>C
NC_000023.10:g.153596286C>G
NG_011506.1:g.11721G>C
NC_000023.11:g.154367918C>G
NP_001447.2:p.Gln182His
NP_001104026.1:p.Gln182His
Position
Human AssemblyChrPosition (strand)Source
GRCh38X154,367,918 - 154,367,918CLINVAR
GRCh37X153,596,286 - 153,596,286CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: Cardiac valvular dysplasia, X-linked; EDS V; EHLERS-DANLOS SYNDROME, TYPE V; Frontometaphyseal Dysplasia (FMD); FRONTOMETAPHYSEAL DYSPLASIA 1; HETEROTOPIA, PERIVENTRICULAR, 1; Heterotopia, periventricular, Ehlers-Danlos variant; ODPD; ODPF SYNDROME; OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; periventricular nodular heterotopia; PERIVENTRICULAR NODULAR HETEROTOPIA 4; TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; X-linked periventricular heterotopia



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13704786
Created: 2018-08-07
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.