RGD:12741875 Rat Genome Database

Variant: RGD:12741875 - Homo sapiens

RGD ID:

12741875

RS ID:

rs1057518811

ClinVar ID:

CV360932

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DEAF1 LOC127820019

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	686,995
GRCh38	11	686,995

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_021008.3:c.667G>A NM_001293634.1:c.664+916G>A NC_000011.10:g.686995C>T NC_000011.9:g.686995C>T More...	11/05/2021	5 prime utr variant\|intron variant	likely benign\|uncertain significance	Attention deficit hyperactivity disorder; Delayed speech and language development; Dyskinesia, seizures, and intellectual developmental disorder; Flat midface; Habsburg jaw; Hapsburg jaw; Infantile muscular hypotonia; Malar flattening; Mandibular prognathia; Misalignment of teeth; none provided; Obesity disorder; Poor fine motor coordination; Thin upper lip vermilion; Tooth malposition

Disease Annotations Click to see Annotation Detail View

attention deficit hyperactivity disorder (IAGP)

Dyskinesias, Seizures, and Intellectual Developmental Disorder (IAGP)

Malocclusion, Angle Class III (IAGP)

obesity (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Attention deficit hyperactivity disorder (IAGP)

Delayed speech and language development (IAGP)

Infantile muscular hypotonia (IAGP)

Malar flattening (IAGP)

Mandibular prognathia (IAGP)

Midface retrusion (IAGP)

Obesity (IAGP)

Poor fine motor coordination (IAGP)

Thin upper lip vermilion (IAGP)

Tooth malposition (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DEAF1
Accession:	NM_001367390
Location:	5UTRS;EXON

Gene Symbol:	DEAF1
Accession:	XM_047426251
Location:	5UTRS;EXON

Gene Symbol:	DEAF1
Accession:	XM_047426250
Location:	5UTRS;EXON

Gene Symbol:	DEAF1
Accession:	XM_047426248
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	223

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGSRGRCIKQGENWYSPTEF EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKRWSLTMLTSLVSISWLRAILPCQPPKVLG L*

Gene Symbol:	DEAF1
Accession:	XM_011519842
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	223

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGSRGRCIKQGENWYSPTEF EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKSEVLNSPAITVELSGFCFCF*

Gene Symbol:	DEAF1
Accession:	XM_047426249
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	223

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGSRGRCIKQGENWYSPTEF EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKAPGSGSNL*

Gene Symbol:	DEAF1
Accession:	NM_021008
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	223

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGSRGRCIKQGENWYSPTEF EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVM EKVTV*

Gene Symbol:	DEAF1
Accession:	XR_007062437
Location:	EXON;NON-CODING

Gene Symbol:	DEAF1
Accession:	XR_007062436
Location:	EXON;NON-CODING

Gene Symbol:	DEAF1
Accession:	NM_001293634
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000415315	CLINVAR
	RCV000479610	CLINVAR
	RCV001197437	CLINVAR
dbSNP (RS)	rs1057518811	CLINVAR
MedGen	C0028754	CLINVAR
	C3661900	CLINVAR
	C4310683	CLINVAR
NCBI Gene	DEAF1	CLINVAR
OMIM	143465	CLINVAR
	176700	CLINVAR
	602635	CLINVAR
	617171	CLINVAR
SNOMED CT	414916001	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:12741875 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:12741875 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar