RGD:401730737 Rat Genome Database

RGD:401730737 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:401730737 - Homo sapiens

RGD ID:

401730737

ClinVar ID:

CV2711471

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	1	33,059,242
GRCh38	1	32,593,641

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001040441.3:c.710C>G NM_001291496.2:c.710C>G NC_000001.11:g.32593641C>G NC_000001.10:g.33059242C>G More...	04/17/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZBTB8A
Accession:	NM_001040441
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	237

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

Gene Symbol:	ZBTB8A
Accession:	NM_001291496
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	237

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004306793	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZBTB8A	CLINVAR
OMIM	618742	CLINVAR