RGD:407478392 Rat Genome Database

RGD:407478392 Rat Genome Database

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Variant: RGD:407478392 - Homo sapiens

RGD ID:

407478392

ClinVar ID:

CV3459189

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	14	24,868,460
GRCh38	14	24,399,254

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_025081.3:c.8T>C NC_000014.9:g.24399254T>C NC_000014.8:g.24868460T>C NM_025081.2:c.8T>C NP_079357.2:p.Leu3Pro More...	04/04/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	NYNRIN
Accession:	NM_025081
Location:	EXON
Amino Acid Prediction:	L to P (nonsynonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLPSGGDPPAQEWFMVQTKSKPRVQRQRLQVQRIFRVKLNAFQSRPDTPYFWLQLEGPRENMGKAKEYLKGLCSPELWKE VRYPPILHCAFLGAQGLFLDCLCWSTLAYLVPGPPGSLMVGGLTESFIMTQNWLEELVGRLRWGPAPLLTPRGIWEAEVT RAFGALVWIRGDQHAGDLLQLPPAVQELLLSLVRDAAGKEDIIEWLSRFGISDSHSDPEVLICPPQQQKEAPAMVSVGES PGPFVDMGTLQNRGPENSKRLSSLGATGSLITAQSTPQEAANQLVRVGSNNQDGMDSAQEEGTVQATSSQDSTNHTQALL KQRQVQKIEDKLLFQPPVSALGVCPPWKAWTPGPAFGPLWPGAIAATFWRINELHSLHLAWLLSQACFNFPFWQRPLGPI QLKLPGQNPLPLNLEWKQKELAPLPSAESPAGRPDGGLGGEAALQNCPRPEISPKVTSLLVVPGSSDVKDKVSSDLPQIG PPLTSTPQLQAGGEPGDQGSMQLDFKGLEEGPAPVLPTGQGKPVAQGGLTDQSVPGAQTVPETLKVPMAAAVPKAENPSR TQVPSAAPKLPTSRMMLAVHTEPAAPEVPLAPTKPTAQLMATAQKTVVNQPVLVAQVEPTTPKTPQAQKMPVAKTSPAGP KTPKAQAGPAATVSKAPAASKAPAAPKVPVTPRVSRAPKTPAAQKVPTDAGPTLDVARLLSEVQPTSRASVSLLKGQGQA GRQGPQSSGTLALSSKHQFQMEGLLGAWEGAPRQPPRHLQANSTVTSFQRYHEALNTPFELNLSGEPGNQGLRRVVIDGS SVAMVHGLQHFFSCRGIAMAVQFFWNRGHREVTVFVPTWQLKKNRRVRESHFLTKLHSLKMLSITPSQLENGKKITTYDY RFMVKLAEETDGIIVTNEQIHILMNSSKKLMVKDRLLPFTFAGNLFMVPDDPLGRDGPTLDEFLKKPNRLDTDIGNFLKV WKTLPPSSASVTELSDDADSGPLESLPNMEEVREEKEERQDEEQRQGQGTQKAAEEDDLDSSLASVFRVECPSLSEEILR CLSLHDPPDGALDIDLLPGAASPYLGIPWDGKAPCQQVLAHLAQLTIPSNFTALSFFMGFMDSHRDAIPDYEALVGPLHS LLKQKPDWQWDQEHEEAFLALKRALVSALCLMAPNSQLPFRLEVTVSHVALTAILHQEHSGRKHPIAYTSKPLLPDEESQ GPQSGGDSPYAVAWALKHFSRCIGDTPVVLDLSYASRTTADPEVREGRRVSKAWLIRWSLLVQDKGKRALELALLQGLLG ENRLLTPAASMPRFFQVLPPFSDLSTFVCIHMSGYCFYREDEWCAGFGLYVLSPTSPPVSLSFSCSPYTPTYAHLAAVAC GLERFGQSPLPVVFLTHCNWIFSLLWELLPLWRARGFLSSDGAPLPHPSLLSYIISLTSGLSSLPFIYRTSYRGSLFAVT VDTLAKQGAQGGGQWWSLPKDVPAPTVSPHAMGKRPNLLALQLSDSTLADIIARLQAGQKLSGSSPFSSAFNSLSLDKES GLLMFKGDKKPRVWVVPTQLRRDLIFSVHDIPLGAHQRPEETYKKLRLLGWWPGMQEHVKDYCRSCLFCIPRNLIGSELK VIESPWPLRSTAPWSNLQIEVVGPVTISEEGHKHVLIVADPNTRWVEAFPLKPYTHTAVAQVLLQHVFARWGVPVRLEAA QGPQFARHVLVSCGLALGAQVASLSRDLQFPCLTSSGAYWEFKRALKEFIFLHGKKWAASLPLLHLAFRASSTDATPFKV LTGGESRLTEPLWWEMSSANIEGLKMDVFLLQLVGELLELHWRVADKASEKAENRRFKRESQEKEWNVGDQVLLLSLPRN GSSAKWVGPFYIGDRLSLSLYRIWGFPTPEKLGCIYPSSLMKAFAKSGTPLSFKVLEQ*

Gene Symbol:	NYNRIN
Accession:	XM_011537016
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004638991	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	NYNRIN	CLINVAR
OMIM	620129	CLINVAR