RGD:10052799 Rat Genome Database

Variant: RGD:10052799 - Homo sapiens

RGD ID:

10052799

RS ID:

rs150771247

ClinVar ID:

CV195351

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

WFS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	6,293,695
GRCh38	4	6,291,968

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006005.3:c.683G>A NG_011700.1:g.27119G>A NC_000004.12:g.6291968G>A NC_000004.11:g.6293695G>A More...	05/13/2021	missense variant	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	AllHighlyPenetrant; Autosomal dominant nonsyndromic deafness 6; Autosomal dominant nonsyndromic hearing loss 6; CATARACT 41, CONGENITAL NUCLEAR TYPE; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION; none provided; Type 2 diabetes mellitus; Type II diabetes mellitus; WFS1-Related Disorders; WFS1-Related Low-Frequency Sensory Hearing Loss; WOLFRAM SYNDROME 1; Wolfram-like syndrome; Wolfram-like syndrome, autosomal dominant

Disease Annotations Click to see Annotation Detail View

autosomal dominant nonsyndromic deafness 6 (IAGP)

autosomal dominant Wolfram syndrome (IAGP)

cataract 41 (IAGP)

maturity-onset diabetes of the young type 1 (IAGP)

type 2 diabetes mellitus (IAGP)

Wolfram syndrome 1 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Type II diabetes mellitus (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	WFS1
Accession:	NM_001145853
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	228

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPT KGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENE REVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRHMLERLVSSESKN YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIP THHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWN HLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRAS IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWL TAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTK DIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFD FFFFPFLSAA*

Gene Symbol:	WFS1
Accession:	NM_006005
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	228

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERADGTGPT KGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENE REVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRHMLERLVSSESKN YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIKEYLIDMASRAGMHWLSTIIP THHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWN HLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMWCELSVVILLESTGLGLLRAS IGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVTVAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWL TAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTK DIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFD FFFFPFLSAA*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:24033266	PMID:25133958	PMID:25741868	PMID:28432734	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000023512	CLINVAR
	RCV000200201	CLINVAR
	RCV000515386	CLINVAR
	RCV000724125	CLINVAR
	RCV001155463	CLINVAR
	RCV001155464	CLINVAR
	RCV003927681	CLINVAR
dbSNP (RS)	rs150771247	CLINVAR
MedGen	C1833021	CLINVAR
	C3280358	CLINVAR
	C3661900	CLINVAR
	C3805412	CLINVAR
	CN169374	CLINVAR
	CN239410	CLINVAR
NCBI Gene	WFS1	CLINVAR
OMIM	116400	CLINVAR
	125853	CLINVAR
	222300	CLINVAR
	600965	CLINVAR
	606201	CLINVAR
	614296	CLINVAR
OMIM Allele	606201.0026	CLINVAR
SNOMED CT	44054006	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:10052799 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:10052799 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar