RGD:28882565 Rat Genome Database

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Variant: RGD:28882565 -  Homo sapiens

RGD ID: 28882565
RS ID: rs145785987
ClinVar ID: CV864797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 70,896,038
GRCh38 1 70,430,355
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190463.2:c.589T>C
NP_714964.2:p.Cys185Arg
NM_153742.5:c.553T>C
NM_001902.5:c.685T>C
More... 		04/27/2017 missense variant uncertain significance CYSTATHIONASE DEFICIENCY; Gamma-cystathionase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CTH
Accession:NM_001902
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQEKDASSQGFLPHFQHFATQAIHVGQDPEQWTSRAVVPPISLSTTFKQGAPGQHSGFEYSRSGNPTRNCLEKAVAALDG
AKYCLAFASGLAATVTITHLLKAGDQIICMDDVYGGTNRYFRQVASEFGLKISFVDCSKIKLLEAAITPETKLVWIETPT
NPTQKVIDIEGCAHIVHKHGDIILVVDNTFMSPYFQRPLALGADISMYSATKYMNGHSDVVMGLVSVNRESLHNRLRFLQ
NSLGAVPSPIDCYLCNRGLKTLHVRMEKHFKNGMAVAQFLESNPWVEKVIYPGLPSHPQHELVKRQCTGCTGMVTFYIKG
TLQHAEIFLKNLKLFTLAESLGGFESLAELPAIMTHASVLKNDRDVLGISDTLIRLSVGLEDEEDLLEDLDQALKAAHPP
SGSHS*

Gene Symbol:CTH
Accession:NM_153742
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQEKDASSQGFLPHFQHFATQAIHVGQDPEQWTSRAVVPPISLSTTFKQGAPGQHSGFEYSRSGNPTRNCLEKAVAALDG
AKYCLAFASGLAATVTITHLLKAGDQIICMDDVYGGTNRYFRQVASEFGLKISFVDCSKIKLLEAAITPETKRPLALGAD
ISMYSATKYMNGHSDVVMGLVSVNRESLHNRLRFLQNSLGAVPSPIDCYLCNRGLKTLHVRMEKHFKNGMAVAQFLESNP
WVEKVIYPGLPSHPQHELVKRQCTGCTGMVTFYIKGTLQHAEIFLKNLKLFTLAESLGGFESLAELPAIMTHASVLKNDR
DVLGISDTLIRLSVGLEDEEDLLEDLDQALKAAHPPSGSHS*

Gene Symbol:CTH
Accession:NM_001190463
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQEKDASSQGFLPHFQHFATQAIHVGQDPEQWTSRAVVPPISLSTTFKQGAPGQHSGFEYSRSGNPTRNCLEKAVAALDG
AKYCTNRYFRQVASEFGLKISFVDCSKIKLLEAAITPETKLVWIETPTNPTQKVIDIEGCAHIVHKHGDIILVVDNTFMS
PYFQRPLALGADISMYSATKYMNGHSDVVMGLVSVNRESLHNRLRFLQNSLGAVPSPIDCYLCNRGLKTLHVRMEKHFKN
GMAVAQFLESNPWVEKVIYPGLPSHPQHELVKRQCTGCTGMVTFYIKGTLQHAEIFLKNLKLFTLAESLGGFESLAELPA
IMTHASVLKNDRDVLGISDTLIRLSVGLEDEEDLLEDLDQALKAAHPPSGSHS*

Gene Symbol:CTH
Accession:XM_017000416
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPYFQRPLALGADISMYSATKYMNGHSDVVMGLVSVNRESLHNRLRFLQNSLGAVPSPIDCYLCNRGLKTLHVRMEKHF
KNGMAVAQFLESNPWVEKVIYPGLPSHPQHELVKRQCTGCTGMVTFYIKGTLQHAEIFLKNLKLFTLAESLGGFESLAEL
PAIMTHASVLKNDRDVLGISDTLIRLSVGLEDEEDLLEDLDQALKAAHPPSGSHS*
Variant Samples
Additional References at PubMed
PMID:23555315  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001097217 CLINVAR
dbSNP (RS) rs145785987 CLINVAR
MedGen C0220993 CLINVAR
NCBI Gene CTH CLINVAR
OMIM 219500 CLINVAR
  607657 CLINVAR
SNOMED CT 13003007 CLINVAR