NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)Rat Genome Database

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Variant : CV974535 (NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)) Homo sapiens

Symbol: CV974535
Name: NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser)
RGD ID: 40888149
Condition: Walker-Warburg congenital muscular dystrophy [RCV001267716]
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): NC_000022.11:g.46436281G>C
NG_030466.2:g.105890C>G
NC_000022.10:g.46832178G>C
NM_014246.3:c.4415C>G
NP_001365257.1:p.Thr1472Ser
NP_055061.1:p.Thr1472Ser
NM_001378328.1:c.4415C>G
NM_014246.4:c.4415C>G
NG_030466.1:g.105890C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382246,436,281 - 46,436,281CLINVAR
GRCh372246,832,178 - 46,832,178CLINVAR
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 RCV001267716 CLINVAR
MedGen C0265221 CLINVAR
NCBI Gene CELSR1 CLINVAR
OMIM 604523 CLINVAR
SNOMED CT 111504002 CLINVAR