rs150033934 Rat Genome Database

rs150033934 Rat Genome Database

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Variant: rs150033934 - Homo sapiens

RGD ID:

11643340

RS ID:

rs150033934

ClinVar ID:

CV269528

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	5	137,222,975
GRCh38	5	137,887,286

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006790.2:c.1398T>G NP_001129412.1:p.Leu282= NP_001287840.1:p.Leu351= NC_000005.10:g.137887286T>G More...	05/07/2024	synonymous variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	AllHighlyPenetrant; Autosomal dominant spheroid body myopathy; Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Spheroid body myopathy

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV269528	Human	myofibrillar myopathy 3		IAGP		8554872	ClinVar Annotator: match by term: Myofibrillar myopathy 3	ClinVar	PMID:26467025 and PMID:28492532

Gene Symbol:	MYOT
Accession:	XM_017010061
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	271

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

Gene Symbol:	MYOT
Accession:	NM_001300911
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	351

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

Gene Symbol:	MYOT
Accession:	NM_006790
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	466

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

Gene Symbol:	MYOT
Accession:	NM_001135940
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	282

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

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:26467025	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000392345	CLINVAR
	RCV001410801	CLINVAR
	RCV004999228	CLINVAR
dbSNP (RS)	rs150033934	CLINVAR
MedGen	C3661900	CLINVAR
	C3714934	CLINVAR
	CN169374	CLINVAR
NCBI Gene	MYOT	CLINVAR
	PKD2L2-DT	CLINVAR
OMIM	159000	CLINVAR
	604103	CLINVAR
	609200	CLINVAR