RGD:405808321 Rat Genome Database

RGD:405808321 Rat Genome Database

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Variant: RGD:405808321 - Homo sapiens

RGD ID:

405808321

ClinVar ID:

CV3353120

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	1	33,059,019
GRCh38	1	32,593,418

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001040441.3:c.487C>T NM_001291496.2:c.487C>T NC_000001.11:g.32593418C>T NC_000001.10:g.33059019C>T More...	12/15/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZBTB8A
Accession:	NM_001040441
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEISSHQSHLLQQLNEQRRQDVFCDCSILVEGKVFKAHRNVLFASSGYFKMLLSQNSKETSQPTTATFQAFSPDTFTVIL DFVYSGKLSLTGQNVIEVMSAASFLQMTDVISVCKTFIKSSLDISEKEKDRYFSLSDKDANSNGVERSSFYSGGWQEGSS SPCSHLSPEQGTGIISGKSWNKYNYHPASQKNTQQPLAKHEPRKESIKKTKHLRLSQPSEVTHYKSSKREVRTSDSSSHV SQSEEQAQIDAEMDSTPVGYQYGQGSDVTSKSFPDDLPRMRFKCPYCTHVVKRKADLKRHLRCHTGERPYPCQACGKRFS RLDHLSSHFRTIHQACKLICRKCKRHVTDLTGQVVQEGTRRYRLCNECLAEFGIDSLPIDLEAEQHLMSPSDGDKDSRWH LSEDENRSYVEIVEDGSADLVIQQVDDSEEEEEKEIKPNIR*

Gene Symbol:	ZBTB8A
Accession:	NM_001291496
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEISSHQSHLLQQLNEQRRQDVFCDCSILVEGKVFKAHRNVLFASSGYFKMLLSQNSKETSQPTTATFQAFSPDTFTVIL DFVYSGKLSLTGQNVIEVMSAASFLQMTDVISVCKTFIKSSLDISEKEKDRYFSLSDKDANSNGVERSSFYSGGWQEGSS SPCSHLSPEQGTGIISGKSWNKYNYHPASQKNTQQPLAKHEPRKESIKKTKHLRLSQPSEVTHYKSSKREVRTSDSSSHV SQSEEQAQIDAEMDSTPVGYQYGQGSDVTSKSFPDDLPRMRFKCPYCTHVVKRKADLKRHLRCHTGERPYPCQACGKRFS RLDHLSSHFRTMEIRIPDGT*

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004481146	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZBTB8A	CLINVAR
OMIM	618742	CLINVAR