RGD:13469093 Rat Genome Database

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Variant: RGD:13469093 -  Homo sapiens

RGD ID: 13469093
RS ID: rs1200757086
ClinVar ID: CV463319
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C12orf57  LOC127823549  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 7,055,038
GRCh38 12 6,945,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001288766.1:p.Leu83=
NG_034262.1:g.7059C>T
NC_000012.12:g.6945875C>T
NC_000012.11:g.7055038C>T
More... 		05/17/2017 non-coding transcript variant|synonymous variant likely benign 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_138425
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301838
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLKFARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPH
GPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301837
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGVLKFARLVKSYEAQDPEIASLSGKLKALFLPP
MTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301834
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301836
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNDLMVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLKFARLVKSYEAQDP
EIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

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 RCV000544934 CLINVAR
dbSNP (RS) rs1200757086 CLINVAR
MedGen C1857512 CLINVAR
NCBI Gene C12orf57 CLINVAR
OMIM 218340 CLINVAR
  615140 CLINVAR