RGD:405808317 Rat Genome Database

RGD:405808317 Rat Genome Database

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Variant: RGD:405808317 - Homo sapiens

RGD ID:

405808317

ClinVar ID:

CV3353118

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	1	33,066,010
GRCh38	1	32,600,409

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001291496.2:c.*112A>G NM_001040441.3:c.1316A>G NC_000001.11:g.32600409A>G NC_000001.10:g.33066010A>G More...	01/08/2024	3 prime utr variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZBTB8A
Accession:	NM_001291496
Location:	3UTRS;EXON

Gene Symbol:	ZBTB8A
Accession:	NM_001040441
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	439

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEISSHQSHLLQQLNEQRRQDVFCDCSILVEGKVFKAHRNVLFASSGYFKMLLSQNSKETSQPTTATFQAFSPDTFTVIL DFVYSGKLSLTGQNVIEVMSAASFLQMTDVISVCKTFIKSSLDISEKEKDRYFSLSDKDANSNGVERSSFYSGGWQEGSS SPRSHLSPEQGTGIISGKSWNKYNYHPASQKNTQQPLAKHEPRKESIKKTKHLRLSQPSEVTHYKSSKREVRTSDSSSHV SQSEEQAQIDAEMDSTPVGYQYGQGSDVTSKSFPDDLPRMRFKCPYCTHVVKRKADLKRHLRCHTGERPYPCQACGKRFS RLDHLSSHFRTIHQACKLICRKCKRHVTDLTGQVVQEGTRRYRLCNECLAEFGIDSLPIDLEAEQHLMSPSDGDKDSRWH LSEDENRSYVEIVEDGSADLVIQQVDDSEEEEEKEIKPSIR*

Gene Symbol:	ZBTB8A
Accession:	NR_111980
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004481144	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZBTB8A	CLINVAR
OMIM	618742	CLINVAR