rs75631475 Rat Genome Database

rs75631475 Rat Genome Database

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Variant: rs75631475 - Homo sapiens

RGD ID:

15114343

RS ID:

rs75631475

ClinVar ID:

CV754129

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	14	68,156,965
GRCh38	14	67,690,248

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001252650.2:c.454+892A>G NM_016026.4:c.628A>G NG_042282.1:g.10546A>G NC_000014.9:g.67690248T>C More...	01/11/2024	intron variant	likely benign	none provided; RDH11-related condition; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV754129	Human	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome		IAGP		8554872	ClinVar Annotator: match by term: RDH11-related condition	ClinVar	PMID:28492532

Gene Symbol:	RDH11
Accession:	NM_016026
Location:	EXON
Amino Acid Prediction:	I to L (nonsynonymous)
Amino Acid Position:	210

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVELMFPLLLLLLPFLLYMAAPQIRKMLSSGVCTSTVQLPGKVVVVTGANTGIGKETAKELAQRGARVYLACRDVEKGEL VAKEIQTTTGNQQVLVRKLDLSDTKSIRAFAKGFLAEEKHLHVLINNAGVMMCPYSKTADGFEMHIGVNHLGHFLLTHLL LEKLKESAPSRIVNVSSLAHHLGRIHFHNLQGEKFYNAGLAYCHSKLANLLFTQELARRLKGSGVTTYSVHPGTVQSELV RHSSFMRWMWWLFSFFIKTPQQGAQTSLHCALTEGLEILSGNHFSDCHVAWVSAQARNETIARRLWDVSCDLLGLPID*

Gene Symbol:	GPHN
Accession:	NM_001024218
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_011536345
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_047430878
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_017020913
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_017020918
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_011536340
Location:	INTRON

Gene Symbol:	GPHN
Accession:	NM_001377514
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_047430876
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_047430880
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_017020917
Location:	INTRON

Gene Symbol:	GPHN
Accession:	NM_001377515
Location:	INTRON

Gene Symbol:	GPHN
Accession:	NM_001377517
Location:	INTRON

Gene Symbol:	RDH11
Accession:	NM_001252650
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_011536342
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_017020914
Location:	INTRON

Gene Symbol:	GPHN
Accession:	NM_001377518
Location:	INTRON

Gene Symbol:	GPHN
Accession:	NM_020806
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_011536344
Location:	INTRON

Gene Symbol:	GPHN
Accession:	NM_001377516
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_047430879
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_011536343
Location:	INTRON

Gene Symbol:	GPHN
Accession:	NM_001377519
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_047430875
Location:	INTRON

Gene Symbol:	GPHN
Accession:	XM_047430877
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000917260	CLINVAR
	RCV003902966	CLINVAR
dbSNP (RS)	rs75631475	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	GPHN	CLINVAR
	RDH11	CLINVAR
OMIM	603930	CLINVAR
	607849	CLINVAR