RGD:156014758 Rat Genome Database

RGD:156014758 Rat Genome Database

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Variant: RGD:156014758 - Homo sapiens

RGD ID:

156014758

ClinVar ID:

CV2301571

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	12	99,020,061
GRCh38	12	98,626,283

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_201613.4:c.180-11943G>A NM_201612.4:c.297+8013G>A NM_153687.4:c.781G>A NC_000012.12:g.98626283C>T More...	09/14/2022	intron variant	likely benign	AllHighlyPenetrant

Gene Symbol:	IKBIP
Accession:	NM_153687
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	261

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWADPRTCLSLLSLGTCLGLAWFVFQQSEKFAKVENQYQLLK LETNEFQQLQSKISLISEKLESTESILQEATSSMSLMTQFEQEVSNLQDIMHDIQNNEEVLTQRMQSLNEKFQNITDFWK RSLEEMNINTDIFKSEAKHIHSQVTVQINSAEQEIKLLTERLKDLEDSTLRNIRTVKRQEEEDLLRVEEQLGSDTKAIEK LEEEQHALFARDEDLTNKLSNYEPKVEECKTHLPTIESAIHSVLRVSQDLIETEKKMEDLTMQMFNMEDDMLKAVSEIME MQKTLEGIQYDNSILKMQNELDILKEKVHDFIAYSSTGEKGTLKEYNIENKGIGGDF*

Gene Symbol:	IKBIP
Accession:	NM_201612
Location:	INTRON

Gene Symbol:	IKBIP
Accession:	NM_201613
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004162480	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	IKBIP	CLINVAR
OMIM	609861	CLINVAR