RGD:11595017 Rat Genome Database

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Variant: RGD:11595017 -  Homo sapiens

RGD ID: 11595017
RS ID: rs146206905
ClinVar ID: CV289014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HGD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 120,347,344
GRCh38 3 120,628,497
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
NG_011957.1:g.58985G>A
NC_000003.12:g.120628497C>T
NC_000003.11:g.120347344C>T
NP_000178.2:p.Ala407=
More... 		11/01/2022 synonymous variant benign|likely benign adult 1-9 / 1 000 000 Alcaptonuria; Alkaptonuric ochronosis; Homogentisic acid oxidase deficiency; Homogentisic acidura; Ochronosis, hereditary
Disease Annotations     Click to see Annotation Detail View
alkaptonuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:HGD
Accession:NM_000187
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQ
VTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQK
GNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVP
GGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPP
RWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMF
ESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN*

Gene Symbol:HGD
Accession:XM_017006277
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGL
ANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVL
TAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKA
SKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN*

Gene Symbol:HGD
Accession:XM_005247412
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 332
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQ
VTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQK
GNLLIYTEFGKMLVQPNEICVIQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADF
VIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGT
MAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN*

Gene Symbol:HGD
Accession:XM_005247413
Location:INTRON

Gene Symbol:HGD
Accession:XM_047448059
Location:INTRON

Gene Symbol:HGD
Accession:XM_047448058
Location:INTRON

Gene Symbol:HGD
Accession:XM_011512746
Location:INTRON

Gene Symbol:HGD
Accession:XM_005247414
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16085442   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000365826 CLINVAR
dbSNP (RS) rs146206905 CLINVAR
MedGen C0002066 CLINVAR
NCBI Gene HGD CLINVAR
OMIM 203500 CLINVAR
  607474 CLINVAR