RGD:156140370 Rat Genome Database

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Variant: RGD:156140370 -  Homo sapiens

RGD ID: 156140370
ClinVar ID: CV2044452
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130060903  NAGLU  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 40,688,532
GRCh38 17 42,536,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000263.4:c.242C>T
NG_011552.1:g.5582C>T
NG_136590.1:g.68C>T
NC_000017.11:g.42536514C>T
More... 		10/04/2022 missense variant uncertain significance Charcot-Marie-Tooth disease axonal type 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V; MPS 3B; MPS III B; Mucopoly-saccharidosis type 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B); MUCOPOLYSACCHARIDOSIS, TYPE IIIB; N-acetyl-alpha-d-glucosaminidase deficiency; NAGLU DEFICIENCY; Sanfilippo syndrome B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NAGLU
Accession:XM_047436138
Location:5UTRS;EXON

Gene Symbol:NAGLU
Accession:XM_024450771
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGS
MGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRASAGPPEKRKEDAYRAVLLYRYYQNVCTQSYS
FVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIK
QLYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELIK
EFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVL
DLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAEL
GWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWR
LLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSW
LEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKNV
FQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW*

Gene Symbol:NAGLU
Accession:NM_000263
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGS
MGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALN
GINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTP
VLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPP
SSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQ
PFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAA
RRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDL
LDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQ
NSRYQLTLWGPEGNILDYANKQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPR
GDTVDLAKKIFLKYYPRWVAGSW*

Gene Symbol:NAGLU
Accession:XM_017024687
Location:INTRON

Gene Symbol:NAGLU
Accession:XM_047436139
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002800927 CLINVAR
MedGen C0086648 CLINVAR
NCBI Gene LOC130060903 CLINVAR
  NAGLU CLINVAR
OMIM 252920 CLINVAR
  609701 CLINVAR
  616491 CLINVAR
SNOMED CT 59990008 CLINVAR