RGD:38472137 Rat Genome Database

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Variant: RGD:38472137 -  Homo sapiens

RGD ID: 38472137
RS ID: rs1945749389
ClinVar ID: CV936250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C12orf57  LOC127823546  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 7,053,810
GRCh38 12 6,944,647
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001301837.2:c.142+82G>C
NM_001301836.2:c.185G>C
NM_001301838.2:c.119G>C
NM_138425.3:c.224G>C
More... 		09/16/2019 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_001301836
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDLMVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDAEGVLKFARLVKSYEAQDP
EIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301834
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDAEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_138425
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDAEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301838
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDAEGVLKFARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPH
GPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301837
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001203044 CLINVAR
dbSNP (RS) rs1945749389 CLINVAR
MedGen C1857512 CLINVAR
NCBI Gene C12orf57 CLINVAR
OMIM 218340 CLINVAR
  615140 CLINVAR