RGD:407478313 Rat Genome Database

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Variant: RGD:407478313 -  Homo sapiens

RGD ID: 407478313
ClinVar ID: CV3427229
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF689  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 30,616,587
GRCh38 16 30,605,266
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138447.3:c.501C>A
NC_000016.10:g.30605266G>T
NC_000016.9:g.30616587G>T
NR_073482.1:n.364C>A
More... 		04/08/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZNF689
Accession:NM_138447
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPSAPLPAQGPGKARPSRKRGRRPRALKFVDVAVYFSPEEWGCLRPAQRALYRDVMRETYGHLGALGCAGPKPALISW
LERNTDDWEPAALDPQEYPRGLTVQRKSRTRKKNGEKEVFPPKEAPRKGKRGRRPSKPRLIPRQTSGGPICPDCGCTFPD
HQALESQKCAQNLKKPYPCPDCGRRFSYPSLLVSHRRAHSGECPYVCDQCGKRFSQRKNLSQHQVIHTGEKPYHCPDCGR
CFRRSRSLANHRTTHTGEKPHQCPSCGRRFAYPSLLAIHQRTHTGEKPYTCLECNRRFRQRTALVIHQRIHTGEKPYPCP
DCERRFSSSSRLVSHRRVHSGERPYACEHCEARFSQRSTLLQHQLLHTGEKPYPCPDCGRAFRRSGSLAIHRSTHTEEKL
HACDDCGRRFAYPSLLASHRRVHSGERPYACDLCSKRFAQWSHLAQHQLLHTGEKPFPCLECGRCFRQRWSLAVHKCSPK
APNCSPRSAIGGSSQRGNAH*

Gene Symbol:ZNF689
Accession:NR_073480
Location:EXON;NON-CODING

Gene Symbol:ZNF689
Accession:NR_073482
Location:EXON;NON-CODING

Gene Symbol:ZNF689
Accession:NR_073481
Location:EXON;NON-CODING

Gene Symbol:ZNF689
Accession:NR_104166
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004601734 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZNF689 CLINVAR
OMIM 618033 CLINVAR