RGD:405114336 Rat Genome Database

RGD:405114336 Rat Genome Database

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Variant: RGD:405114336 - Homo sapiens

RGD ID:

405114336

ClinVar ID:

CV2959777

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	5	137,217,663
GRCh38	5	137,881,974

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_201t1:c.685A>G NM_001135940.2:c.133A>G NM_001300911.2:c.340A>G NM_006790.3:c.685A>G More...	07/10/2023	missense 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)
CV2959777	Human	myofibrillar myopathy 3		IAGP		8554872	ClinVar Annotator: match by term: Myofibrillar myopathy 3	ClinVar	PMID:28492532

Gene Symbol:	MYOT
Accession:	NM_001300911
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSNYQQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLTYEEKMARRLLGPQNA AAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRGRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSG LPAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKP QSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGWYTVSAVNEAGVTTCN TRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQRLAAQSGLYESEEL*

Gene Symbol:	MYOT
Accession:	XM_017010061
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	34

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

Gene Symbol:	MYOT
Accession:	NM_006790
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	229

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

Gene Symbol:	MYOT
Accession:	NM_001135940
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRGRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEG RFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKE HKRAPMFIYKPQSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGWYTVS AVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQRLAAQSGLYESEEL*

Gene Symbol:	PKD2L2-DT
Accession:	XR_007058950
Location:	EXON;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	RCV003616166	CLINVAR
MedGen	C3714934	CLINVAR
NCBI Gene	MYOT	CLINVAR
	PKD2L2-DT	CLINVAR
OMIM	159000	CLINVAR
	604103	CLINVAR
	609200	CLINVAR