RGD:126736816 Rat Genome Database

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Variant: RGD:126736816 -  Homo sapiens

RGD ID: 126736816
RS ID: rs886043573
ClinVar ID: CV1007375
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  LOC105375168  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 16,460,947
GRCh38 7 16,421,322
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001101426.3:c.1A>G
NM_001101426.4:c.1A>G
NM_001368197.1:c.1A>G
NC_000007.14:g.16421322T>C
More... 		01/14/2022 initiatior codon variant|initiator_codon_variant likely pathogenic|uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2U; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7; none provided; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRPPA
Accession:NM_001101417
Location:EXON

Gene Symbol:CRPPA
Accession:NM_001101426
Location:EXON

Gene Symbol:CRPPA
Accession:NM_001368197
Location:EXON

Gene Symbol:CRPPA
Accession:NR_160656
Location:EXON;NON-CODING

Gene Symbol:LOC105375168
Accession:XR_007060224
Location:INTRON;NON-CODING

Gene Symbol:LOC105375168
Accession:XR_007060221
Location:INTRON;NON-CODING

Gene Symbol:LOC105375168
Accession:XR_007060219
Location:INTRON;NON-CODING

Gene Symbol:LOC105375168
Accession:XR_007060223
Location:INTRON;NON-CODING

Gene Symbol:LOC105375168
Accession:XR_007060222
Location:INTRON;NON-CODING

Gene Symbol:LOC105375168
Accession:XR_007060220
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:23288328   PMID:23390185   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001313902 CLINVAR
  RCV001780245 CLINVAR
dbSNP (RS) rs886043573 CLINVAR
MedGen C3553330 CLINVAR
  C3661900 CLINVAR
NCBI Gene CRPPA CLINVAR
  LOC129998005 CLINVAR
OMIM 614631 CLINVAR
  614643 CLINVAR
  616052 CLINVAR