RGD:155968128 Rat Genome Database

RGD:155968128 Rat Genome Database

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Variant: RGD:155968128 - Homo sapiens

RGD ID:

155968128

ClinVar ID:

CV2261959

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IKBIP LOC127824815

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	99,038,359
GRCh38	12	98,644,581

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_201614.1:c.-80G>T NM_153687.4:c.121G>T NM_201612.4:c.121G>T NG_126331.1:g.548C>A More...	12/21/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	IKBIP
Accession:	NM_201613
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWSDPRTCLSLLSLGTCLGLACGRNLKLSWNN*

Gene Symbol:	IKBIP
Accession:	NM_201612
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWSDPRTCLSLLSLGTCLGLAWFVFQQSEKFAKVENQYQLLK LETNEFQQLQSKISLISEKWQKSEAIMEQLKSFQIIAHLKRLQEEINEVKTWSNRITEKQDILNNSLTTLSQDITKVDQS TTSMAKDVGLKITSVKTDIRRISGLVTDVISLTDSVQELENKIEKVEKNTVKNIGDLLSSSIDRTATLRKTASENSQRIN SVKKTLTELKSDFDKHTDRFLSLEGDRAKVLKTVTFANDLKPKVYNLKKDFSRLEPLVNDLTLRIGRLVTDLLQREKEIA FLSEKISNLTIVQAEIKDIKDEIAHISDMN*

Gene Symbol:	IKBIP
Accession:	NM_153687
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSEVKSRKKSGPKGAPAAEPGKRSEGGKTPVARSSGGGGWSDPRTCLSLLSLGTCLGLAWFVFQQSEKFAKVENQYQLLK LETNEFQQLQSKISLISEKLESTESILQEATSSMSLMTQFEQEVSNLQDIMHDIQNNEEVLTQRMQSLNEKFQNITDFWK RSLEEMNINTDIFKSEAKHIHSQVTVQINSAEQEIKLLTERLKDLEDSTLRNIRTVKRQEEEDLLRVEEQLGSDTKAIEK LEEEQHALFARDEDLTNKLSDYEPKVEECKTHLPTIESAIHSVLRVSQDLIETEKKMEDLTMQMFNMEDDMLKAVSEIME MQKTLEGIQYDNSILKMQNELDILKEKVHDFIAYSSTGEKGTLKEYNIENKGIGGDF*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004126454	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	IKBIP	CLINVAR
OMIM	609861	CLINVAR