RGD:10053194 Rat Genome Database

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Variant: RGD:10053194 -  Homo sapiens

RGD ID: 10053194
RS ID: rs185594460
ClinVar ID: CV195926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  CRPPA-AS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 16,298,080
GRCh38 7 16,258,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.16258455G>T
NC_000007.13:g.16298080G>T
NP_001094896.1:p.Gln352Lys
NM_001101426.4:c.1054C>A
More... 		03/17/2020 intron variant|missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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_001368197
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQVTYKRDLYAAES
IIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQET*KLL
SMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIAS
LIKERNSGLIGQLLIA*

Gene Symbol:CRPPA
Accession:NM_001101417
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMD
TEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQET*KLLSMLEESSLCILYPVV
VVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLI
A*

Gene Symbol:CRPPA
Accession:NM_001101426
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTEC
LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEAL
GHAGRHLQQIILDQCYNFVCVNVTTSDFQET*KLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKE
VKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA*

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

Gene Symbol:CRPPA-AS1
Accession:NR_038946
Location:INTRON;NON-CODING

Gene Symbol:CRPPA-AS1
Accession:NR_038947
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248399 CLINVAR
  RCV000303108 CLINVAR
  RCV000534203 CLINVAR
  RCV001092557 CLINVAR
dbSNP (RS) rs185594460 CLINVAR
MedGen C3553330 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239202 CLINVAR
NCBI Gene ISPD CLINVAR
  ISPD-AS1 CLINVAR
OMIM 614631 CLINVAR
  614643 CLINVAR
  616052 CLINVAR