RGD:152999824 Rat Genome Database

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Variant: RGD:152999824 -  Homo sapiens

RGD ID: 152999824
RS ID: rs904775713
ClinVar ID: CV1683379
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DEAF1  LOC127820022  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 694,945
GRCh38 11 694,945
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001280563.1:p.Gly35Ser
NM_001293634.1:c.103G>A
NM_021008.4:c.103G>A
NG_034156.2:g.17139G>A
More... 		11/16/2020 intron variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:DEAF1
Accession:XM_047426250
Location:5UTRS;EXON

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

Gene Symbol:DEAF1
Accession:XM_011519842
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGSEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK
NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS
CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKSEVLNSPAITVELSGFCFCF*

Gene Symbol:DEAF1
Accession:NM_021008
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGSEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK
NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS
CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVM
EKVTV*

Gene Symbol:DEAF1
Accession:XM_047426248
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGSEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK
NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS
CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKRWSLTMLTSLVSISWLRAILPCQPPKVLG
L*

Gene Symbol:DEAF1
Accession:NM_001293634
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGSEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGWDLKPSRCLLHLCCLLRR
HDLITVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEA
ALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATN
QAKIHADAERKEVIHPPRLPKVLGLQQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHV
AESVMEKVTV*

Gene Symbol:DEAF1
Accession:XM_047426249
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGSEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGA
EALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVET
TGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPK
NITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDS
CQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKAPGSGSNL*

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

Gene Symbol:DEAF1
Accession:XM_047426251
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002252563 CLINVAR
dbSNP (RS) rs904775713 CLINVAR
NCBI Gene DEAF1 CLINVAR
OMIM 602635 CLINVAR