NM_004737.6(LARGE1):c.*823_*824dupRat Genome Database

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Variant : CV352488 (NM_004737.6(LARGE1):c.*823_*824dup) Homo sapiens

Symbol: CV352488
Name: NM_004737.6(LARGE1):c.*823_*824dup
RGD ID: 11635239
Condition: Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000372333]|Walker-Warburg congenital muscular dystrophy [RCV000319958]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: LARGE1  
Variant Type: duplication (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_856:g.651825_651826dup
NM_004737.4:c.*823_*824dupTA
NM_004737.6:c.*823_*824dup
NG_009929.2:g.651825_651826dup
NM_001362953.1:c.*823_*824dup
NM_133642.4:c.*823_*824dup
NC_000022.11:g.33273603_33273604dup
NM_001362949.1:c.*823_*824dup
NM_001362951.1:c.*823_*824dup
NC_000022.10:g.33669589_33669590dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382233,273,602 - 33,273,603CLINVAR
GRCh372233,669,588 - 33,669,589CLINVAR
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 RCV000319958 CLINVAR
  RCV000372333 CLINVAR
dbSNP (RS) rs140177888 CLINVAR
MedGen C0265221 CLINVAR
  CN239202 CLINVAR
NCBI Gene LARGE1 CLINVAR
OMIM 603590 CLINVAR
SNOMED CT 111504002 CLINVAR