RGD:156053520 Rat Genome Database

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Variant: RGD:156053520 -  Homo sapiens

RGD ID: 156053520
ClinVar ID: CV2388536
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF559  ZNF559-ZNF177  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 9,453,557
GRCh38 19 9,342,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001202408.1:c.*1253C>T
NM_001202409.2:c.*1253C>T
NP_001189336.1:p.Ser435Leu
NP_115886.1:p.Ser477Leu
More...
05/06/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZNF559
Accession:NM_001202412
Location:3UTRS;EXON

Gene Symbol:ZNF559
Accession:NM_001202410
Location:3UTRS;EXON

Gene Symbol:ZNF559
Accession:NM_001202409
Location:3UTRS;EXON

Gene Symbol:ZNF559
Accession:NM_001202408
Location:3UTRS;EXON

Gene Symbol:ZNF559
Accession:NM_001202411
Location:3UTRS;EXON

Gene Symbol:ZNF559-ZNF177
Accession:NM_001384659
Location:5UTRS;INTRON

Gene Symbol:ZNF559-ZNF177
Accession:NM_001172650
Location:5UTRS;INTRON

Gene Symbol:ZNF559-ZNF177
Accession:NM_001202425
Location:5UTRS;INTRON

Gene Symbol:ZNF559
Accession:NM_001202407
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 435
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLENYKNLVAVDWESHINTKWSAPQQNFLQGKTSSVVEMERNHFGEELFDFNQCEKALSEHSCLKTHRRTYFRKKTCECN
QCEKAFRKPSIFTLHKKTDIGEELPNCNQCETAFSQHLHLVCKKTSQNLHLVCKKTHTQEKPYKCSDCEKGLPSSSHLRE
CVRIYGGERPYTHKEYVETFSHSTALFVHMQTQDGEKFYECKACGKPFTESSYLTQHLRTHSRVLPIEHKKFGKAFAFSP
DLAKHIRLRTRGKHYVCNECGKEFTCFSKLNIHIRVHTGEKPYECNKCGKAFTDSSGLIKHRRTHTGEKPYECKECGKAF
ANSSHLTVHMRTHTGEKPYQCKECGKAFINSSSFKSHMQTHPGVKPYDCQQCGKAFIRSSFLIRHLRSHSAERPFECEEC
GKAFRYSSHLSQHKRIHTGERPYKCQKCGQAFSILSGLTVHMRTHTGERPFECQECGKAFTRSTYLIRHLRSHSVEKPYK
ECGQTFSNSSCLTECV*

Gene Symbol:ZNF559
Accession:NM_032497
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 477
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAGWLTNYSQDSVTFEDVAVDFTQEEWTLLDQTQRNLYRDVMLENYKNLVAVDWESHINTKWSAPQQNFLQGKTSSVVE
MERNHFGEELFDFNQCEKALSEHSCLKTHRRTYFRKKTCECNQCEKAFRKPSIFTLHKKTDIGEELPNCNQCETAFSQHL
HLVCKKTSQNLHLVCKKTHTQEKPYKCSDCEKGLPSSSHLRECVRIYGGERPYTHKEYVETFSHSTALFVHMQTQDGEKF
YECKACGKPFTESSYLTQHLRTHSRVLPIEHKKFGKAFAFSPDLAKHIRLRTRGKHYVCNECGKEFTCFSKLNIHIRVHT
GEKPYECNKCGKAFTDSSGLIKHRRTHTGEKPYECKECGKAFANSSHLTVHMRTHTGEKPYQCKECGKAFINSSSFKSHM
QTHPGVKPYDCQQCGKAFIRSSFLIRHLRSHSAERPFECEECGKAFRYSSHLSQHKRIHTGERPYKCQKCGQAFSILSGL
TVHMRTHTGERPFECQECGKAFTRSTYLIRHLRSHSVEKPYKECGQTFSNSSCLTECV*

Gene Symbol:ZNF559
Accession:NM_001202406
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 541
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRITAAILTARSRWRLRNSISAFLFTVTFAWCPPGLSNLTILSCPDHLSQDVFCLHESKFEEERMVAGWLTNYSQDSVTF
EDVAVDFTQEEWTLLDQTQRNLYRDVMLENYKNLVAVDWESHINTKWSAPQQNFLQGKTSSVVEMERNHFGEELFDFNQC
EKALSEHSCLKTHRRTYFRKKTCECNQCEKAFRKPSIFTLHKKTDIGEELPNCNQCETAFSQHLHLVCKKTSQNLHLVCK
KTHTQEKPYKCSDCEKGLPSSSHLRECVRIYGGERPYTHKEYVETFSHSTALFVHMQTQDGEKFYECKACGKPFTESSYL
TQHLRTHSRVLPIEHKKFGKAFAFSPDLAKHIRLRTRGKHYVCNECGKEFTCFSKLNIHIRVHTGEKPYECNKCGKAFTD
SSGLIKHRRTHTGEKPYECKECGKAFANSSHLTVHMRTHTGEKPYQCKECGKAFINSSSFKSHMQTHPGVKPYDCQQCGK
AFIRSSFLIRHLRSHSAERPFECEECGKAFRYSSHLSQHKRIHTGERPYKCQKCGQAFSILSGLTVHMRTHTGERPFECQ
ECGKAFTRSTYLIRHLRSHSVEKPYKECGQTFSNSSCLTECV*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004237387 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZNF559 CLINVAR
  ZNF559-ZNF177 CLINVAR