RGD:401767873 Rat Genome Database

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Variant: RGD:401767873 -  Homo sapiens

RGD ID: 401767873
ClinVar ID: CV2729977
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAFA  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 144,512,318
GRCh38 8 143,430,148
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_201589.4:c.259T>G
NC_000008.11:g.143430148A>C
NC_000008.10:g.144512318A>C
NM_201589.3:c.259T>G
More... 		04/07/2023 missense variant likely benign AllHighlyPenetrant

Gene Symbol:MAFA
Accession:NM_201589
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAELAMGAELPSSPLAIEYVNDFDLMKFEVKKEPPEAERFCHRLPPGSLSSTPLSTPCSSVPSSPSFCAPSPGTGGGGG
AGGGGGASQAGGAPGPPSGGPGAVGGTSGKPALEDLYWMSGYQHHLNPEALNLTPEDAVEALIGSGHHGAHHGAHHPAAA
AAYEAFRGPGFAGGGGADDMGAGHHHGAHHAAHHHHAAHHHHHHHHHHGGAGHGGGAGHHVRLEERFSDDQLVSMSVREL
NRQLRGFSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHILESEKCQLQSQVEQLKLEVGRLAKERDLYKEKYEKLAGR
GGPGSAGGAGFPREPSPPQAGPGGAKGTADFFL*
.


Database
Acc Id
Source(s)
ClinVar RCV004332968 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MAFA CLINVAR
OMIM 610303 CLINVAR