RGD:156163740 Rat Genome Database

RGD:156163740 Rat Genome Database

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Variant: RGD:156163740 - Homo sapiens

RGD ID:

156163740

ClinVar ID:

CV2246685

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IKBIP LOC127824815

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	99,038,320
GRCh38	12	98,644,542

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_153687.4:c.160A>T NM_201612.4:c.160A>T NM_201613.4:c.160A>T NG_029094.1:g.4243T>A More...	10/12/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	IKBIP
Accession:	NM_201612
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	54

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

Gene Symbol:	IKBIP
Accession:	NM_153687
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	54

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

Gene Symbol:	IKBIP
Accession:	NM_201613
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	54

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004110414	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	IKBIP	CLINVAR
OMIM	609861	CLINVAR