RGD:156008079 Rat Genome Database

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Variant: RGD:156008079 -  Homo sapiens

RGD ID: 156008079
ClinVar ID: CV2126690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 644,603
GRCh38 11 644,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001293634.1:c.1420C>T
NM_021008.4:c.1645C>T
NM_001367390.1:c.919C>T
NG_034156.2:g.67481C>T
More... 		05/01/2023 nonsense uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DEAF1
Accession:XM_047426251
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNI
TLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQ
IAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHAST
YREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTV*ADEVHVAESVMEK
VTV*

Gene Symbol:DEAF1
Accession:NM_001367390
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNI
TLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQ
IAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHAST
YREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTV*ADEVHVAESVMEK
VTV*

Gene Symbol:DEAF1
Accession:NM_021008
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 549
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK
NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS
CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTV*ADEVHVAESVM
EKVTV*

Gene Symbol:DEAF1
Accession:NM_001293634
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 474
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGWDLKPSRCLLHLCCLLRR
HDLITVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEA
ALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATN
QAKIHADAERKEVIHPPRLPKVLGLQQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTV*ADEVHV
AESVMEKVTV*

Gene Symbol:DEAF1
Accession:XM_047426248
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_011519842
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426250
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426249
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002975496 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR