rs375388046 Rat Genome Database

rs375388046 Rat Genome Database

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Variant: rs375388046 - Homo sapiens

RGD ID:

11613125

RS ID:

rs375388046

ClinVar ID:

CV329413

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	764,878
GRCh38	11	764,878

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_008160.1:g.22447C>T NC_000011.10:g.764878C>T NC_000011.9:g.764878C>T NM_006755.2:c.33C>T NM_006755.1:c.33C>T More...	01/13/2018	3 prime utr variant	uncertain significance	infancy	<1 / 1 000 000	EYAID SYNDROME

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV329413	Human	Transaldolase Deficiency		IAGP		8554872	ClinVar Annotator: match by term: EYAID SYNDROME	ClinVar

Gene Symbol:	TALDO1
Accession:	NM_006755
Location:	3UTRS;EXON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000265768	CLINVAR
dbSNP (RS)	rs375388046	CLINVAR
MedGen	C1291329	CLINVAR
NCBI Gene	TALDO1	CLINVAR
OMIM	602063	CLINVAR
	606003	CLINVAR
SNOMED CT	124252008	CLINVAR