RGD:156149036 Rat Genome Database

RGD:156149036 Rat Genome Database

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Variant: RGD:156149036 - Homo sapiens

RGD ID:

156149036

ClinVar ID:

CV1929029

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	17	7,592,339
GRCh38	17	7,689,021

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_375t1:c.373T>C NM_001143990.2:c.373T>C LRG_321:g.3530A>G NM_001143991.2:c.373T>C More...	03/18/2022	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	WRAP53
Accession:	NM_001143990
Location:	EXON
Amino Acid Prediction:	S to P (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGPGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:	WRAP53
Accession:	NM_001143991
Location:	EXON
Amino Acid Prediction:	S to P (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGPGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:	WRAP53
Accession:	NM_018081
Location:	EXON
Amino Acid Prediction:	S to P (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGPGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

Gene Symbol:	WRAP53
Accession:	NM_001143992
Location:	EXON
Amino Acid Prediction:	S to P (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREGDPVSLSTPLE TEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGPGKAMEDTSGEPAAEDEGDTAWNYSFSQLPRFLSGS WSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVEYAEMVPVLRMVEGDTIYDYCWYSLMSSAQP DTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAAHSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAK KQGQSGIISCIAFSPAQPLYACGSYGRSLGLYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQS GYPLWSLGREVTTNQRIYFDLDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATAS GQRVFPEPTESGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002623939	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	WRAP53	CLINVAR
OMIM	612661	CLINVAR