RGD:13784337 Rat Genome Database

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Variant: RGD:13784337 -  Homo sapiens

RGD ID: 13784337
RS ID: rs547192168
ClinVar ID: CV548202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEXA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 72,638,622
GRCh38 15 72,346,281
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000520.4:c.1375A>G
NC_000015.9:g.72638622T>C
NP_000511.2:p.Met459Val
NC_000015.10:g.72346281T>C
More... 		06/01/2022 missense variant uncertain significance GM2 gangliosidosis, type 1; HexA deficiency; Hexosaminidase A Deficiency; Hexosaminidase alpha-subunit deficiency (variant B); Sphingolipidosis, Tay-Sachs
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HEXA
Accession:NM_001318825
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 470
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPR
PYLTGWPHQAYPVFLGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKS
AEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNP
VTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVS
SVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTII
QVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACVWGEYVDNTNL
VPRLWPRAGAVAERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT*

Gene Symbol:HEXA
Accession:NM_000520
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 459
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPR
PYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTE
IEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK
EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLG
GDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNY
MKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACVWGEYVDNTNLVPRLWPRAGAV
AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT*

Gene Symbol:HEXA
Accession:NR_134869
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000670766 CLINVAR
dbSNP (RS) rs547192168 CLINVAR
MedGen C0039373 CLINVAR
NCBI Gene HEXA CLINVAR
OMIM 272800 CLINVAR
  606869 CLINVAR
SNOMED CT 111385000 CLINVAR