rs1554635488 Rat Genome Database

rs1554635488 Rat Genome Database

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Variant: rs1554635488 - Homo sapiens

RGD ID:

13517905

RS ID:

rs1554635488

ClinVar ID:

CV488127

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MAFA

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	8	144,512,386
GRCh38	8	143,430,216

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_963883.2:p.Ser64Phe NC_000008.10:g.144512386G>A NC_000008.11:g.143430216G>A NM_201589.3:c.191C>T NM_201589.4:c.191C>T More...	10/15/2018	missense variant	pathogenic\|likely pathogenic

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV488127	Human	Islet Cell Adenomatosis		IAGP		8554872	ClinVar Annotator: match by term: Islet cell adenomatosis	ClinVar	PMID:25741868\|PMID:29339498

Gene Symbol:	MAFA
Accession:	NM_201589
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAELAMGAELPSSPLAIEYVNDFDLMKFEVKKEPPEAERFCHRLPPGSLSSTPLSTPCSSVPFSPSFCAPSPGTGGGGG AGGGGGSSQAGGAPGPPSGGPGAVGGTSGKPALEDLYWMSGYQHHLNPEALNLTPEDAVEALIGSGHHGAHHGAHHPAAA AAYEAFRGPGFAGGGGADDMGAGHHHGAHHAAHHHHAAHHHHHHHHHHGGAGHGGGAGHHVRLEERFSDDQLVSMSVREL NRQLRGFSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHILESEKCQLQSQVEQLKLEVGRLAKERDLYKEKYEKLAGR GGPGSAGGAGFPREPSPPQAGPGGAKGTADFFL*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:29339498

Database	Acc Id	Source(s)
ClinVar	RCV000590882	CLINVAR
dbSNP (RS)	rs1554635488	CLINVAR
MedGen	C1578917	CLINVAR
NCBI Gene	MAFA	CLINVAR
OMIM	147630	CLINVAR
	610303	CLINVAR
OMIM Allele	610303.0001	CLINVAR