RGD:13786146 Rat Genome Database

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Variant: RGD:13786146 -  Homo sapiens

RGD ID: 13786146
RS ID: rs759603316
ClinVar ID: CV481146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TWNK  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 102,748,841
GRCh38 10 100,989,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001163814.2:c.-119-560C>A
NM_001163813.2:c.-119-560C>A
NM_021830.5:c.874C>A
NG_011646.1:g.3432G>T
More... 		01/04/2022 intron variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TWNK
Accession:NM_001163814
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NM_001163813
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NM_001368275
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NM_001163812
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA
LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPTALLPYLEQFRRIVFWLGDDLRSWEAAKL
FARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNR
ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR
KEDDDKELQTASIFGSAKVSGL*

Gene Symbol:TWNK
Accession:NM_021830
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA
LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPTALLPYLEQFRRIVFWLGDDLRSWEAAKL
FARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNR
ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR
KEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKK
IKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK*

Gene Symbol:TWNK
Accession:NR_160740
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160742
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160741
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160738
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160739
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:29302074   PMID:31823625  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000677240 CLINVAR
  RCV002530362 CLINVAR
dbSNP (RS) rs759603316 CLINVAR
MedGen C3661900 CLINVAR
  C4015307 CLINVAR
NCBI Gene TWNK CLINVAR
OMIM 606075 CLINVAR
  616138 CLINVAR