rs1755447825 Rat Genome Database

rs1755447825 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs1755447825 - Homo sapiens

RGD ID:

26889697

RS ID:

rs1755447825

ClinVar ID:

CV830208

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	5	137,217,679
GRCh38	5	137,881,990

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001135940.2:c.149G>A NM_001300911.2:c.356G>A NM_006790.3:c.701G>A LRG_201:g.19135G>A More...	04/06/2023	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)
CV830208	Human	myofibrillar myopathy 3		IAGP		8554872	ClinVar Annotator: match by term: Myofibrillar myopathy 3	ClinVar	PMID:28492532

Gene Symbol:	MYOT
Accession:	NM_001135940
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	50

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

Gene Symbol:	MYOT
Accession:	NM_001300911
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	119

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

Gene Symbol:	MYOT
Accession:	NM_006790
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	234

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

Gene Symbol:	MYOT
Accession:	XM_017010061
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	39

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

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	RCV001058463	CLINVAR
dbSNP (RS)	rs1755447825	CLINVAR
MedGen	C3714934	CLINVAR
NCBI Gene	MYOT	CLINVAR
	PKD2L2-DT	CLINVAR
OMIM	159000	CLINVAR
	604103	CLINVAR
	609200	CLINVAR