RGD:11636894 Rat Genome Database

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Variant: RGD:11636894 -  Homo sapiens

RGD ID: 11636894
RS ID: rs761842188
ClinVar ID: CV272417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  LOC105375168  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 16,460,825
GRCh38 7 16,421,200
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001101417.4:c.123G>C
NM_001368197.1:c.123G>C
NG_032690.2:g.5123G>C
NC_000007.14:g.16421200C>G
More... 		05/18/2018 non-coding transcript variant|synonymous variant likely benign|conflicting interpretations of pathogenicity|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
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMD
TEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVV
VVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLI
A*

Gene Symbol:CRPPA
Accession:NM_001368197
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQVTYKRDLYAAES
IIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLL
SMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIAS
LIKERNSGLIGQLLIA*

Gene Symbol:CRPPA
Accession:NM_001101426
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYT
LQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRP
FVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTEC
LQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEAL
GHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKE
VKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA*

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_007060220
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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000726129 CLINVAR
  RCV001088686 CLINVAR
dbSNP (RS) rs761842188 CLINVAR
MedGen C3553330 CLINVAR
  C3661900 CLINVAR
NCBI Gene ISPD CLINVAR
OMIM 614631 CLINVAR
  614643 CLINVAR
  616052 CLINVAR