RGD:405672059 Rat Genome Database

RGD:405672059 Rat Genome Database

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Variant: RGD:405672059 - Homo sapiens

RGD ID:

405672059

ClinVar ID:

CV3378638

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	X	135,047,188
GRCh38	X	135,965,029

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001330000.2:c.391C>T NM_173470.3:c.391C>T NC_000023.11:g.135965029G>A NC_000023.10:g.135047188G>A More...	11/17/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	MMGT1
Accession:	NM_173470
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAPSLWKGLVGIGLFALAHAAFSAAQHRSYMRLTEKEDESLPIDIVLQTLLAFAVTCYGIVHIAGEFKDMDATSELKNKT FDTLRNHPSFYVFNHRGRVLFRPSDTANSSNQDALSSNTSLKLRKLESLRC*

Gene Symbol:	MMGT1
Accession:	NM_001330000
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAPSLWKGLVGIGLFALAHAAFSAAQHRSYMRLTEKEDESLPIDIVLQTLLAFAVTCYGIVHIAGEFKDMDATSELKNKT FDTLRNHPSFYVFNHRGRVLFRPSDTANSSNQDALSSNTSLKLRKLESLRC*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004515390	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	MMGT1	CLINVAR
OMIM	301098	CLINVAR