RGD:13478585 Rat Genome Database

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Variant: RGD:13478585 -  Homo sapiens

RGD ID: 13478585
RS ID: rs1065761
ClinVar ID: CV447437
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHIT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 203,186,093
GRCh38 1 203,216,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012867.1:g.17768C>T
NC_000001.10:g.203186093G>A
NP_003456.1:p.Ala442Val
NR_045785.2:n.1433C>T
More... 		11/18/2019 missense variant benign|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHIT1
Accession:NM_001256125
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRSVAWAGFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPKDLDPSLCTHLIYAFAGMTNHQLSTTEWNDETLYQEF
NGLKKMFTDMVATANNRQTFVNSAIRFLRKYSFDGLDLDWEYPGSQGSPAVDKERFTTLVQDLANAFQQEAQTSGKERLL
LSAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSWEKVTGHNSPLYKRQEESGAAASLNVDAAVQQWLQKGTPASK
LILGMPTYGRSFTLASSSDTRVGAPATGSGTPGPFTKEGGMLAYYEVCSWKGATKQRIQDQKVPYIFRDNQWVGFDDVES
FKTKVSYLKQKGLGGAMVWALDLDDFAGFSCNQGRYPLIQTLRQELSLPYLPSGTPELEVPKPGQPSEPEHGPSPGQDTF
CQGKADGLYPNPRERSSFYSCAVGRLFQQSCPTGLVFSNSCKCCTWN*

Gene Symbol:CHIT1
Accession:NM_003465
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRSVAWAGFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPKDLDPSLCTHLIYAFAGMTNHQLSTTEWNDETLYQEF
NGLKKMNPKLKTLLAIGGWNFGTQKFTDMVATANNRQTFVNSAIRFLRKYSFDGLDLDWEYPGSQGSPAVDKERFTTLVQ
DLANAFQQEAQTSGKERLLLSAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSWEKVTGHNSPLYKRQEESGAAAS
LNVDAAVQQWLQKGTPASKLILGMPTYGRSFTLASSSDTRVGAPATGSGTPGPFTKEGGMLAYYEVCSWKGATKQRIQDQ
KVPYIFRDNQWVGFDDVESFKTKVSYLKQKGLGGAMVWALDLDDFAGFSCNQGRYPLIQTLRQELSLPYLPSGTPELEVP
KPGQPSEPEHGPSPGQDTFCQGKADGLYPNPRERSSFYSCAVGRLFQQSCPTGLVFSNSCKCCTWN*

Gene Symbol:CHIT1
Accession:XM_047442899
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 457
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKQFERGQWRSKRAGLEPSCLTRFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPKDLDPSLCTHLIYAFAGMTNHQ
LSTTEWNDETLYQEFNGLKKMNPKLKTLLAIGGWNFGTQKFTDMVATANNRQTFVNSAIRFLRKYSFDGLDLDWEYPGSQ
GSPAVDKERFTTLVQDLANAFQQEAQTSGKERLLLSAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSWEKVTGHN
SPLYKRQEESGAAASLNVDAAVQQWLQKGTPASKLILGMPTYGRSFTLASSSDTRVGAPATGSGTPGPFTKEGGMLAYYE
VCSWKGATKQRIQDQKVPYIFRDNQWVGFDDVESFKTKVSYLKQKGLGGAMVWALDLDDFAGFSCNQGRYPLIQTLRQEL
SLPYLPSGTPELEVPKPGQPSEPEHGPSPGQDTFCQGKADGLYPNPRERSSFYSCAVGRLFQQSCPTGLVFSNSCKCCTW
N*

Gene Symbol:CHIT1
Accession:NR_045784
Location:EXON;NON-CODING

Gene Symbol:CHIT1
Accession:NR_045785
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:17693102   PMID:23430794   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000675716 CLINVAR
  RCV001030826 CLINVAR
dbSNP (RS) rs1065761 CLINVAR
MedGen C3279902 CLINVAR
  C3661900 CLINVAR
NCBI Gene CHIT1 CLINVAR
OMIM 600031 CLINVAR
  614122 CLINVAR