RGD:401771253 Rat Genome Database

RGD:401771253 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:401771253 - Homo sapiens

RGD ID:

401771253

ClinVar ID:

CV2722767

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	36,205,987
GRCh38	19	35,715,085

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001316903.2:c.-86-378G>T NM_014383.3:c.459G>T NM_001316902.2:c.6-378G>T NG_052906.1:g.2067G>T More...	06/05/2023	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZBTB32
Accession:	NM_001316903
Location:	5UTRS;INTRON

Gene Symbol:	ZBTB32
Accession:	NM_014383
Location:	EXON
Amino Acid Prediction:	Q to H (nonsynonymous)
Amino Acid Position:	153

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLPPIRLPSPYGSDRLVQLAARLRPALCDTLITVGSQEFPAHSLVLAGVSQQLGRRGQWALGEGISPSTFAQLLNFVYG ESVELQPGELRPLQEAARALGVQSLEEACWRARGDRAKKPDPGLKKHQEEPEKPSRNPERELGDPGEKQKPEHVSRTGGR EQEMLHKHSPPRGRPEMAGATQEAQQEQTRSKEKRLQAPVGQRGADGKHGVLTWLRENPGGSEESLRKLPGPLPPAGSLQ TSVTPRPSWAEAPWLVGGQPALWSILLMPPRYGIPFYHSTPTTGAWQEVWREQRIPLSLNAPKGLWSQNQLASSSPTPGS LPQGPAQLSPGEMEESDQGHTGALATCAGHEDKAGCPPRPHPPPAPPARSRPYACSVCGKRFSLKHQMETHYRVHTGEKP FSCSLCPQRSRDFSAMTKHLRTHGAAPYRCSLCGAGCPSLASMQAHMRGHSPSQLPPGWTIRSTFLYSSSRPSRPSTSPC CPSSSTT*

Gene Symbol:	ZBTB32
Accession:	XM_017026591
Location:	INTRON

Gene Symbol:	ZBTB32
Accession:	NM_001316902
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004325195	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZBTB32	CLINVAR
OMIM	605859	CLINVAR