RGD:329388572 Rat Genome Database

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Variant: RGD:329388572 -  Homo sapiens

RGD ID: 329388572
ClinVar ID: CV2469389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 160,208,797
GRCh38 6 159,787,765
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001008897.2:c.-209T>C
NM_030752.3:c.257T>C
NC_000006.12:g.159787765A>G
NC_000006.11:g.160208797A>G
More... 		03/06/2023 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TCP1
Accession:NM_001008897
Location:5UTRS;EXON

Gene Symbol:TCP1
Accession:NM_030752
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGPLSVFGDRSTGETIRSQNVMAAASIANIVKSSLGPVGLDKMLVDDIGDVTITNDGATILKLLEVEHPAAKVLCELAD
LQDKEAGDGTTSVVIIAAELLKNADELVKQKIHPTSVISGYRLACKEAVRYINENLIVNTDELGRDCLINAAKTSMSSKI
IGINGDFFANMVVDAVLAIKYTDIRGQPRYPVNSVNILKAHGRSQMESMLISGYALNCVVGSQGMPKRIVNAKIACLDFS
LQKTKMKLGVQVVITDPEKLDQIRQRESDITKERIQKILATGANVILTTGGIDDMCLKYFVEAGAMAVRRVLKRDLKRIA
KASGATILSTLANLEGEETFEAAMLGQAEEVVQERICDDELILIKNTKARTSASIILRGANDFMCDEMERSLHDALCVVK
RVLESKSVVPGGGAVEAALSIYLENYATSMGSREQLAIAEFARSLLVIPNTLAVNAAQDSTDLVAKLRAFHNEAQVNPER
KNLKWIGLDLSNGKPRDNKQAGVFEPTIVKVKSLKFATEAAITILRIDDLIKLHPESKDDKHGSYEDAVHSGALND*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004281020 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TCP1 CLINVAR
OMIM 186980 CLINVAR