rs727505367 Rat Genome Database

rs727505367 Rat Genome Database

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Variant: rs727505367 - Homo sapiens

RGD ID:

9693629

RS ID:

rs727505367

ClinVar ID:

CV178331

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	4	68,619,704
GRCh38	4	67,753,986

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009293.1:g.7101T>G NC_000004.12:g.67753986A>C NC_000004.11:g.68619704A>C NP_000397.1:p.Leu117Arg More...	05/31/2019	missense variant	pathogenic\|likely pathogenic	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV178331	Human	Delayed Puberty		IAGP		8554872	ClinVar Annotator: match by term: Delayed puberty	ClinVar	PMID:25636053
CV178331	Human	hypogonadotropic hypogonadism 7 with or without anosmia		IAGP		8554872	ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia	ClinVar	PMID:25636053

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV178331	Human	Delayed puberty		IAGP		8554872	ClinVar Annotator: match by term: Delayed pubertal growth	ClinVar	PMID:25636053

Gene Symbol:	GNRHR
Accession:	NM_001012763
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	117

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVRSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV GLAWILSSVFAGPQLPLHHPSFHHADLQCKNHLHPDTGPSSGPPRTTTESVQEQYTKSTAEDSKNDGCICHFIYCLLDSL LCPRNLVLV*

Gene Symbol:	GNRHR
Accession:	NM_000406
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	117

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSRMKLLL KHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVRSYLKLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMV GLAWILSSVFAGPQLYIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTR VLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRLSDPVNHFFFLFAFLNPCFDP LIYGYFSL*

ClinVar GRCh37	ClinVar GRCh38

PMID:25636053

Database	Acc Id	Source(s)
ClinVar	RCV000156945	CLINVAR
	RCV000995775	CLINVAR
dbSNP (RS)	rs727505367	CLINVAR
MedGen	C0034012	CLINVAR
	C0342384	CLINVAR
NCBI Gene	GNRHR	CLINVAR
OMIM	138850	CLINVAR
	146110	CLINVAR