NM_004737.6(LARGE1):c.*770A>TRat Genome Database

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Variant : CV347603 (NM_004737.6(LARGE1):c.*770A>T) Homo sapiens

Symbol: CV347603
Name: NM_004737.6(LARGE1):c.*770A>T
RGD ID: 11657366
Condition: Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000340657]|Walker-Warburg congenital muscular dystrophy [RCV000390754]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: LARGE1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_856:g.651772A>T
NG_009929.2:g.651772A>T
NC_000022.11:g.33273657T>A
NC_000022.10:g.33669643T>A
NM_004737.4:c.*770A>T
NM_004737.6:c.*770A>T
NM_001362949.1:c.*770A>T
NM_001362951.1:c.*770A>T
NM_001362953.1:c.*770A>T
NM_133642.4:c.*770A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382233,273,657 - 33,273,657CLINVAR
GRCh372233,669,643 - 33,669,643CLINVAR
Cytogenetic Map2222q12.3CLINVAR
Trait Synonyms: HARD syndrome; Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000340657 CLINVAR
  RCV000390754 CLINVAR
dbSNP (RS) rs886057456 CLINVAR
MedGen C0265221 CLINVAR
  CN239202 CLINVAR
NCBI Gene LARGE1 CLINVAR
OMIM 603590 CLINVAR
SNOMED CT 111504002 CLINVAR