NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)Rat Genome Database

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Variant : CV424236 (NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)) Homo sapiens

Symbol: CV424236
Name: NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)
RGD ID: 13207687
Condition: Fukuyama congenital muscular dystrophy [RCV000495943]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: FKRP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_761t1:c.679G>C
LRG_761:g.15084G>C
LRG_761p1:p.Ala227Pro
NG_008898.2:g.15084G>C
NC_000019.10:g.46756129G>C
NC_000019.9:g.47259386G>C
p.A227P
NP_001034974.1:p.Ala227Pro
NP_077277.1:p.Ala227Pro
NM_001039885.3:c.679G>C
NM_024301.5:c.679G>C
NM_001039885.2:c.679G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381946,756,129 - 46,756,129CLINVAR
GRCh371947,259,386 - 47,259,386CLINVAR
Cytogenetic Map1919q13.32CLINVAR
Trait Synonyms: Cerebromuscular dystrophy, Fukuyama type; Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
Age Of Onset: infancy



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000495943 CLINVAR
dbSNP (RS) rs775681117 CLINVAR
MedGen C0410174 CLINVAR
NCBI Gene FKRP CLINVAR
OMIM 253800 CLINVAR
  606596 CLINVAR
SNOMED CT 111502003 CLINVAR