RGD:9834920 Rat Genome Database

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Variant: RGD:9834920 -  Homo sapiens

RGD ID: 9834920
RS ID: rs730882157
ClinVar ID: CV181301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KITLG  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 88,939,558
GRCh38 12 88,545,781
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000012.12:g.88545781T>G
NC_000012.11:g.88939558T>G
NP_000890.1:p.Thr34Pro
NG_012098.2:g.39681A>C
More... 		02/26/2015 missense variant pathogenic|not provided infancy|neonatal <1 / 1 000 000 Congenital hypomelanotic and hypermelanotic macules; Hyperpigmentation, familial progressive, 2; MELANOSIS UNIVERSALIS HEREDITARIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KITLG
Accession:NM_000899
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKTQTWILTCIYLQLLLFNPLVKTEGICRNRVPNNVKDVTKLVANLPKDYMITLKYVPGMDVLPSHCWISEMVVQLSDS
LTDLLDKFSNISEGLSNYSIIDKLVNIVDDLVECVKENSSKDLKKSFKSPEPRLFTPEEFFRIFNRSIDAFKDFVVASET
SDCVVSSTLSPEKDSRVSVTKPFMLPPVAASSLRNDSSSSNRKAKNPPGDSSLHWAAMALPALFSLIIGFAFGALYWKKR
QPSLTRAVENIQINEEDNEISMLQEKEREFQEV*

Gene Symbol:KITLG
Accession:NM_003994
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKTQTWILTCIYLQLLLFNPLVKTEGICRNRVPNNVKDVTKLVANLPKDYMITLKYVPGMDVLPSHCWISEMVVQLSDS
LTDLLDKFSNISEGLSNYSIIDKLVNIVDDLVECVKENSSKDLKKSFKSPEPRLFTPEEFFRIFNRSIDAFKDFVVASET
SDCVVSSTLSPEKGKAKNPPGDSSLHWAAMALPALFSLIIGFAFGALYWKKRQPSLTRAVENIQINEEDNEISMLQEKER
EFQEV*
Variant Samples
Additional References at PubMed
PMID:21368769  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000162037 CLINVAR
dbSNP (RS) rs730882157 CLINVAR
MedGen C1840392 CLINVAR
NCBI Gene KITLG CLINVAR
OMIM 145250 CLINVAR
  184745 CLINVAR
OMIM Allele 184745.0005 CLINVAR