NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys)Rat Genome Database

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Variant : CV974536 (NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys)) Homo sapiens

Symbol: CV974536
Name: NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys)
RGD ID: 40888153
Condition: Walker-Warburg congenital muscular dystrophy [RCV001267723]
Clinical Significance: uncertain significance
Last Evaluated: 11/16/2020
Review Status: criteria provided, single submitter
Related Genes: CELSR1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: curation
HGVS Name(s): NP_055061.1:p.Glu404Lys
NM_001378328.1:c.1210G>A
NC_000022.11:g.46535961C>T
NC_000022.10:g.46931858C>T
NM_014246.3:c.1210G>A
NG_030466.1:g.6210G>A
NG_030466.2:g.6210G>A
NP_001365257.1:p.Glu404Lys
NM_014246.4:c.1210G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382246,535,961 - 46,535,961CLINVAR
GRCh372246,931,858 - 46,931,858CLINVAR
Cytogenetic Map2222q13.31CLINVAR
Trait Synonyms: HARD syndrome; Muscular dystrophy-dystroglycanopathy, type A; Walker-Warburg syndrome



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001267723 CLINVAR
MedGen C0265221 CLINVAR
NCBI Gene CELSR1 CLINVAR
OMIM 604523 CLINVAR
SNOMED CT 111504002 CLINVAR