rs1573977845 Rat Genome Database

rs1573977845 Rat Genome Database

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Variant: rs1573977845 - Homo sapiens

RGD ID:

14712609

RS ID:

rs1573977845

ClinVar ID:

CV630653

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC129934333 TMEM127

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	2	96,930,997
GRCh38	2	96,265,259

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_528p1:p.Ile41Met NP_001180233.1:p.Ile41Met NP_060319.1:p.Ile41Met LRG_528t1:c.123C>G More...	08/19/2018	missense variant	uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV630653	Human	Hereditary Paraganglioma-Pheochromocytoma Syndromes		IAGP		8554872	ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	ClinVar	PMID:28492532
CV630653	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_017849
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	41

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

Gene Symbol:	TMEM127
Accession:	NM_001193304
Location:	EXON
Amino Acid Prediction:	I to M (nonsynonymous)
Amino Acid Position:	41

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

Gene Symbol:	TMEM127
Accession:	NM_001407282
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000793855	CLINVAR
dbSNP (RS)	rs1573977845	CLINVAR
MedGen	C1708353	CLINVAR
NCBI Gene	LOC129934333	CLINVAR
	TMEM127	CLINVAR
OMIM	613403	CLINVAR