RGD:405034469 Rat Genome Database

RGD:405034469 Rat Genome Database

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Variant: RGD:405034469 - Homo sapiens

RGD ID:

405034469

ClinVar ID:

CV2924956

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

LOC129934333 TMEM127

Reference Nucleotide:

CCGCCGGCGC

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	2	96,931,076 - 96,931,086
GRCh38	2	96,265,338 - 96,265,348

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_528t1:c.29_38del NM_001407283.1:c.-9+523_-9+532del NM_001193304.3:c.36_45del NM_017849.4:c.36_45del More...	09/17/2023	frameshift variant	pathogenic	Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2924956	Human	Hereditary Paraganglioma-Pheochromocytoma Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	ClinVar	PMID:20154675 more ...
CV2924956	Human	paraganglioma		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	ClinVar	PMID:20154675 more ...

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

Gene Symbol:	TMEM127
Accession:	NM_001193304
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	15

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

Gene Symbol:	TMEM127
Accession:	NM_017849
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	15

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

Gene Symbol:	TMEM127
Accession:	NM_001407282
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:20154675	PMID:21156949	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003517113	CLINVAR
MedGen	C1708353	CLINVAR
NCBI Gene	LOC129934333	CLINVAR
	TMEM127	CLINVAR
OMIM	613403	CLINVAR