RGD:13525645 Rat Genome Database

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Variant: RGD:13525645 -  Homo sapiens

RGD ID: 13525645
RS ID: rs145056714
ClinVar ID: CV508808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEXB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 74,001,089
GRCh38 5 74,705,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000521.4:c.715G>A
NP_001278933.1:p.Val14Ile
NM_000521.3:c.715G>A
NP_000512.2:p.Val239Ile
More...
10/31/2018 missense variant uncertain significance AllHighlyPenetrant; Beta-hexosaminidase-beta-subunit deficiency; GM2 gangliosidosis, type 2; GM2-GANGLIOSIDOSIS, TYPE II; Hexosaminidase A and B deficiency Disease; HEXOSAMINIDASES A AND B DEFICIENCY; none provided; Sandhoff-Jatzkewitz-Pilz disease; Total hexosaminidase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HEXB
Accession:NM_000521
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLLVKMTPNLLHLAPENFYIS
HSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVL
KANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIID
DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFG
PINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINK
GSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM*

Gene Symbol:HEXB
Accession:NM_001292004
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFNKFNVLHWHIIDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDL
LTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLES
FYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYK
VEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQP
LYAGYCNHENM*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:31974414  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000612023 CLINVAR
  RCV001573050 CLINVAR
  RCV001797763 CLINVAR
dbSNP (RS) rs145056714 CLINVAR
MedGen C0036161 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene HEXB CLINVAR
OMIM 268800 CLINVAR
  606873 CLINVAR
SNOMED CT 23849003 CLINVAR