RGD:155932434 Rat Genome Database

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Variant: RGD:155932434 -  Homo sapiens

RGD ID: 155932434
ClinVar ID: CV2364392
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAFA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 144,511,736
GRCh38 8 143,429,566
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_201589.4:c.841A>G
NC_000008.11:g.143429566T>C
NC_000008.10:g.144511736T>C
NM_201589.3:c.841A>G
More... 		10/06/2021 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:MAFA
Accession:NM_201589
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAELAMGAELPSSPLAIEYVNDFDLMKFEVKKEPPEAERFCHRLPPGSLSSTPLSTPCSSVPSSPSFCAPSPGTGGGGG
AGGGGGSSQAGGAPGPPSGGPGAVGGTSGKPALEDLYWMSGYQHHLNPEALNLTPEDAVEALIGSGHHGAHHGAHHPAAA
AAYEAFRGPGFAGGGGADDMGAGHHHGAHHAAHHHHAAHHHHHHHHHHGGAGHGGGAGHHVRLEERFSDDQLVSMSVREL
NRQLRGFSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEKCQLQSQVEQLKLEVGRLAKERDLYKEKYEKLAGR
GGPGSAGGAGFPREPSPPQAGPGGAKGTADFFL*
.


Database
Acc Id
Source(s)
ClinVar RCV004223604 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MAFA CLINVAR
OMIM 610303 CLINVAR