RGD:13496530 Rat Genome Database

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Variant: RGD:13496530 -  Homo sapiens

RGD ID: 13496530
RS ID: rs146024802
ClinVar ID: CV463188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C12orf57  LOC127823546  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 7,053,648
GRCh38 12 6,944,485
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034262.1:g.5669C>T
NC_000012.12:g.6944485C>T
NC_000012.11:g.7053648C>T
NP_612434.1:p.Ala21Val
More... 		12/04/2018 5 prime utr variant|missense variant uncertain significance Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; Dysmorphism, corpus callosum agenesis and colobomas; MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C12orf57
Accession:NM_001301838
Location:5UTRS;EXON

Gene Symbol:C12orf57
Accession:NM_001301836
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDLMVLVEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLKFARLVKSYEAQDP
EIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301837
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQAKVVLVEVIQAFSAPENAVRMDEARDNACNDMGVLKFARLVKSYEAQDPEIASLSGKLKALFLPP
MTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301834
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQAKVVLVEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_138425
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQAKVVLVEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NR_126035
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000537918 CLINVAR
  RCV001788283 CLINVAR
  RCV002526146 CLINVAR
dbSNP (RS) rs146024802 CLINVAR
MedGen C0950123 CLINVAR
  C1857512 CLINVAR
  C3661900 CLINVAR
NCBI Gene C12orf57 CLINVAR
OMIM 218340 CLINVAR
  615140 CLINVAR