RGD:405747964 Rat Genome Database

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Variant: RGD:405747964 -  Homo sapiens

RGD ID: 405747964
ClinVar ID: CV3332028
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127407696  TCP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 160,210,450
GRCh38 6 159,789,418
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.-329C>G
NM_030752.3:c.51C>G
NG_109667.1:g.54G>C
NG_109666.1:g.719G>C
More... 		12/04/2023 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: I to M (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGPLSVFGDRSTGETMRSQNVMAAASIANIVKSSLGPVGLDKMLVDDIGDVTITNDGATILKLLEVEHPAAKVLCELAD
LQDKEVGDGTTSVVIIAAELLKNADELVKQKIHPTSVISGYRLACKEAVRYINENLIVNTDELGRDCLINAAKTSMSSKI
IGINGDFFANMVVDAVLAIKYTDIRGQPRYPVNSVNILKAHGRSQMESMLISGYALNCVVGSQGMPKRIVNAKIACLDFS
LQKTKMKLGVQVVITDPEKLDQIRQRESDITKERIQKILATGANVILTTGGIDDMCLKYFVEAGAMAVRRVLKRDLKRIA
KASGATILSTLANLEGEETFEAAMLGQAEEVVQERICDDELILIKNTKARTSASIILRGANDFMCDEMERSLHDALCVVK
RVLESKSVVPGGGAVEAALSIYLENYATSMGSREQLAIAEFARSLLVIPNTLAVNAAQDSTDLVAKLRAFHNEAQVNPER
KNLKWIGLDLSNGKPRDNKQAGVFEPTIVKVKSLKFATEAAITILRIDDLIKLHPESKDDKHGSYEDAVHSGALND*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004466659 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TCP1 CLINVAR
OMIM 186980 CLINVAR