RGD:156331867 Rat Genome Database

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Variant: RGD:156331867 -  Homo sapiens

RGD ID: 156331867
ClinVar ID: CV2000619
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 644,633
GRCh38 11 644,633
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.1390A>G
NM_021008.4:c.1615A>G
NM_001367390.1:c.889A>G
NG_034156.2:g.67451A>G
More... 		10/21/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DEAF1
Accession:NM_001293634
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGWDLKPSRCLLHLCCLLRR
HDLITVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEA
ALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATN
QAKIHADAERKEVIHPPRLPKVLGLQQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHVCGQSAAVTVQADEVHV
AESVMEKVTV*

Gene Symbol:DEAF1
Accession:NM_001367390
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNI
TLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQ
IAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHAST
YREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHVCGQSAAVTVQADEVHVAESVMEK
VTV*

Gene Symbol:DEAF1
Accession:XM_047426251
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNI
TLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQ
IAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHAST
YREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHVCGQSAAVTVQADEVHVAESVMEK
VTV*

Gene Symbol:DEAF1
Accession:NM_021008
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 539
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK
NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS
CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHVCGQSAAVTVQADEVHVAESVM
EKVTV*

Gene Symbol:DEAF1
Accession:XM_047426250
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_011519842
Location:INTRON

Gene Symbol:DEAF1
Accession:XM_047426248
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 RCV002649863 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR