RGD:155747712 Rat Genome Database

RGD:155747712 Rat Genome Database

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Variant: RGD:155747712 - Homo sapiens

RGD ID:

155747712

ClinVar ID:

CV1849720

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC129934333 TMEM127

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	2	96,931,101
GRCh38	2	96,265,363

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_528t1:c.19G>T NM_001193304.3:c.19G>T NM_017849.4:c.19G>T LRG_528:g.5651G>T More...	10/27/2022	missense variant	uncertain significance	Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas; Neoplastic Syndromes, Hereditary; Tumor predisposition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1849720	Human	Hereditary Neoplastic Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Cancer Syndrome	ClinVar	PMID:28492532
CV1849720	Human	Hereditary Paraganglioma-Pheochromocytoma Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	ClinVar	PMID:28492532
CV1849720	Human	paraganglioma		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	ClinVar	PMID:28492532

Gene Symbol:	TMEM127
Accession:	NM_001407283
Location:	5UTRS;INTRON

Gene Symbol:	TMEM127
Accession:	NM_001193304
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	7

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYAPGGSGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLL KDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQ HKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP*

Gene Symbol:	TMEM127
Accession:	NM_017849
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	7

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYAPGGSGLPGGRRRRSPGGSALPKQPERSLASALPGALSITALCTALAEPAWLHIHGGTCSRQELGVSDVLGYVHPDLL KDFCMNPQTVLLLRVIAAFCFLGILCSLSAFLLDVFGPKHPALKITRRYAFAHILTVLQCATVIGFSYWASELILAQQQQ HKKYHGSQVYVTFAVSFYLVAGAGGASILATAANLLRHYPTEEEEQALELLSEMEENEPYPAEYEVINQFQPPPAYTP*

Gene Symbol:	TMEM127
Accession:	NM_001407282
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002417098	CLINVAR
	RCV003108096	CLINVAR
MedGen	C0027672	CLINVAR
	C1708353	CLINVAR
NCBI Gene	LOC129934333	CLINVAR
	TMEM127	CLINVAR
OMIM	613403	CLINVAR
SNOMED CT	699346009	CLINVAR