RGD:405658669 Rat Genome Database

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Variant: RGD:405658669 -  Homo sapiens

RGD ID: 405658669
ClinVar ID: CV3281706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105375008  MAS1L  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 29,455,117
GRCh38 6 29,487,340
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_052967.2:c.563A>G
NC_000006.12:g.29487340T>C
NC_000006.11:g.29455117T>C
NM_052967.1:c.563A>G
More... 		10/17/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MAS1L
Accession:NM_052967
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVWGKICWFSQRAGWTVFAESQISLSCSLCLHSGDQEAQNPNLVSQLCGVFLQNETNETIHMQMSMAVGQQALPLNIIAP
KAVLVSLCGVLLNGTVFWLLCCGATNPYMVYILHLVAADVIYLCCSAVGFLQVTLLTYHGVVFFIPDFLAILSPFSFEVC
LCLLVAISTERCVCVLFPIWYRCHRPKCTSNVVCTLIWGLPFCINIVKSLFLTYWKHVKACVIFLKLSGLFHAILSLVMC
VSSLTLLIRFLCCSQQQKATRVYAVVQISAPMFLLWALPLSVAPLITDFKMFVTTSYLISLFLIINSSANPIIYFFVGSL
RKKRLKESLRVILQRALADKPEVGRNKKAAGIDPMEQPHSTQHVENLLPREHRVDVET*

Gene Symbol:LOC105375008
Accession:XR_007059916
Location:INTRON;NON-CODING

Gene Symbol:LOC105375008
Accession:XR_007059915
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004416527 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MAS1L CLINVAR
OMIM 607235 CLINVAR