RGD:13517622 Rat Genome Database

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Variant: RGD:13517622 -  Homo sapiens

RGD ID: 13517622
RS ID: rs1008210645
ClinVar ID: CV488991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 16,415,765
GRCh38 7 16,376,140
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.16415765T>G
NP_001094896.1:p.Glu212Asp
NR_160656.1:n.852A>C
NC_000007.14:g.16376140T>G
More... 		06/18/2018 intron variant 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

Variant Details
Variant Transcripts
Gene Symbol:CRPPA
Accession:NM_001101426
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASDMPQAFLFDVIYEAYQQCSDYDLEFGTEC
LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEAL
GHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKE
VKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA*

Gene Symbol:CRPPA
Accession:NM_001368197
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASDMPQAFLFDVIYEAYQQVTYKRDLYAAES
IIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLL
SMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIAS
LIKERNSGLIGQLLIA*

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

Gene Symbol:CRPPA
Accession:NM_001101417
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000596664 CLINVAR
  RCV000699662 CLINVAR
  RCV003139889 CLINVAR
dbSNP (RS) rs1008210645 CLINVAR
MedGen C3553330 CLINVAR
  C3661900 CLINVAR
  C5190987 CLINVAR
NCBI Gene ISPD CLINVAR
OMIM 614631 CLINVAR
  614643 CLINVAR
  616052 CLINVAR