RGD:405808609 Rat Genome Database

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Variant: RGD:405808609 -  Homo sapiens

RGD ID: 405808609
ClinVar ID: CV3353241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZC3H15  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 187,373,413
GRCh38 2 186,508,686
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018471.3:c.1234T>A
NC_000002.12:g.186508686T>A
NC_000002.11:g.187373413T>A
NM_018471.2:c.1234T>A
More... 		09/17/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZC3H15
Accession:NM_018471
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 412
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKKQAQAGGSKKAEQKKKEKIIEDKTFGLKNKKGAKQQKFIKAVTHQVKFGQQNPRQVAQSEAEKKLKKDDKKKELQE
LNELFKPVVAAQKISKGADPKSVVCAFFKQGQCTKGDKCKFSHDLTLERKCEKRSVYIDARDEELEKDTMDNWDEKKLEE
VVNKKHGEAEKKKPKTQIVCKHFLEAIENNKYGWFWVCPGGGDICMYRHALPPGFVLKKDKKKEEKEDEISLEDLIERER
SALGPNVTKITLESFLAWKKRKRQEKIDKLEQDMERRKADFKAGKALVISGREVFEFRPELVNDDDEEADDTRYTQGTGG
DEVDDSVSVNDIDLSLYIPRDVDETGITVASLERFSTYTSDKDENKLSEASGGRAENGERSDLEEDNEREGTENGAIDAV
PVDENLFTGEDMDELEEELNTLDLEE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004481267 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZC3H15 CLINVAR
OMIM 619704 CLINVAR