RGD:401741510 Rat Genome Database

RGD:401741510 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:401741510 - Homo sapiens

RGD ID:

401741510

ClinVar ID:

CV2677375

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	1	33,059,197
GRCh38	1	32,593,596

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001035531.2:p.Thr222Ser NP_001278425.1:p.Thr222Ser NM_001040441.3:c.665C>G NM_001291496.2:c.665C>G More...	04/10/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZBTB8A
Accession:	NM_001040441
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	222

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

Gene Symbol:	ZBTB8A
Accession:	NM_001291496
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	222

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004289457	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZBTB8A	CLINVAR
OMIM	618742	CLINVAR