RGD:402480142 Rat Genome Database

RGD:402480142 Rat Genome Database

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Variant: RGD:402480142 - Homo sapiens

RGD ID:

402480142

ClinVar ID:

CV2882918

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	5	137,211,661
GRCh38	5	137,875,972

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_201t1:c.500G>A NM_001135940.2:c.-53G>A NM_001300911.2:c.155G>A NM_006790.3:c.500G>A More...	04/07/2023	5 prime utr variant	uncertain significance	Autosomal dominant spheroid body myopathy; Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2882918	Human	myofibrillar myopathy 3		IAGP		8554872	ClinVar Annotator: match by term: Myofibrillar myopathy 3	ClinVar	PMID:28492532

Gene Symbol:	MYOT
Accession:	NM_001135940
Location:	5UTRS;EXON

Gene Symbol:	MYOT
Accession:	XM_017010061
Location:	5UTRS;EXON

Gene Symbol:	MYOT
Accession:	NM_006790
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSSHITMSSSAFPASPQQHAGSN PGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNYQQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQD LERKLKYKDTLLHNGNQRLTYEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQ DAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGA YACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQ DNTGRVTLLIKDVNKKDAGWYTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPE GEFQRLAAQSGLYESEEL*

Gene Symbol:	MYOT
Accession:	NM_001300911
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSNYQQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKYKDTLLHNGNQRLTYEEKMARRLLGPQNA AAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSG LPAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKP QSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGWYTVSAVNEAGVTTCN TRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQRLAAQSGLYESEEL*

Gene Symbol:	PKD2L2-DT
Accession:	XR_007058950
Location:	INTRON;NON-CODING

Gene Symbol:	PKD2L2-DT
Accession:	XR_948815
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003506377	CLINVAR
MedGen	C3714934	CLINVAR
NCBI Gene	MYOT	CLINVAR
	PKD2L2-DT	CLINVAR
OMIM	159000	CLINVAR
	604103	CLINVAR
	609200	CLINVAR