RGD:405763051 Rat Genome Database

RGD:405763051 Rat Genome Database

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Variant: RGD:405763051 - Homo sapiens

RGD ID:

405763051

ClinVar ID:

CV3327721

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC126861110 TALDO1

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	11	763,447
GRCh38	11	763,447

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006755.2:c.565T>C NG_008160.1:g.21016T>C NG_085609.1:g.960T>C NC_000011.10:g.763447T>C More...	12/26/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3327721	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	TALDO1
Accession:	NM_006755
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	189

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSPVKRQRMESALDQLKQFTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQELVEEAIAYGRKLGGSQEDQI KNAIDKLFVLFGAEILKKIPGRVSTEVDARLSFDKDAMVARARRLIELYKEAGISKDRILIKLSSTWEGIQAGKELEEQH GIHCNMTLLFSFAQAVACAEAGVTLISPLVGRILDWHVANTDKKSYEPLEDPGVKSVTKIYNYYKKFSYKTIVMGASFRN TGEIKALAGCDFLTISPKLLGELLQDNAKLVPVLSAKAAQASDLEKIHLDEKSFRWLHNEDQMAVEKLSDGIRKFAADAV KLERMLTERMFNAENGK*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004468965	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	LOC126861110	CLINVAR
	TALDO1	CLINVAR
OMIM	602063	CLINVAR