rs1330407694 Rat Genome Database

rs1330407694 Rat Genome Database

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Variant: rs1330407694 - Homo sapiens

RGD ID:

34895387

RS ID:

rs1330407694

ClinVar ID:

CV916947

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	5	137,219,212
GRCh38	5	137,883,523

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_201t1:c.956G>A NM_001135940.2:c.404G>A NM_001300911.2:c.611G>A NM_006790.2:c.956G>A More...	05/30/2019	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	MYOT
Accession:	NM_001135940
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	135

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

Gene Symbol:	MYOT
Accession:	NM_006790
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	319

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

Gene Symbol:	MYOT
Accession:	NM_001300911
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	204

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

Gene Symbol:	MYOT
Accession:	XM_017010061
Location:	EXON
Amino Acid Prediction:	G to E (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQLLCFKLRMTVVHKTRSNTTQNMRDCKFLHHKSRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSG LPAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAEAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKP 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

Database	Acc Id	Source(s)
ClinVar	RCV001192382	CLINVAR
dbSNP (RS)	rs1330407694	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	MYOT	CLINVAR
	PKD2L2-DT	CLINVAR
OMIM	604103	CLINVAR