RGD:13817766 Rat Genome Database

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Variant: RGD:13817766 -  Homo sapiens

RGD ID: 13817766
RS ID: rs782077846
ClinVar ID: CV565710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C12orf57  LOC127823546  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 7,053,312
GRCh38 12 6,944,149
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.5333G>C
NC_000012.12:g.6944149G>C
NC_000012.11:g.7053312G>C
NP_612434.1:p.Ala10Pro
More... 		05/12/2018 5 prime utr variant|intron 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
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_001301837
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAPLSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGVLKFARLVKSYEAQDPEIASLSGKLKALFLPP
MTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301834
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAPLSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_138425
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAPLSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

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

Gene Symbol:C12orf57
Accession:NM_001301836
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000707237 CLINVAR
dbSNP (RS) rs782077846 CLINVAR
MedGen C1857512 CLINVAR
NCBI Gene C12orf57 CLINVAR
OMIM 218340 CLINVAR
  615140 CLINVAR