RGD:156214078 Rat Genome Database

RGD:156214078 Rat Genome Database

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Variant: RGD:156214078 - Homo sapiens

RGD ID:

156214078

ClinVar ID:

CV2085090

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	2	27,669,227
GRCh38	2	27,446,360

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001168364.2:c.*65G>A NM_015662.3:c.4660-5C>T NG_034068.1:g.48452C>T NC_000002.12:g.27446360G>A More...	09/21/2022	3 prime utr variant	likely benign	Retinitis pigmentosa 71

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2085090	Human	short-rib thoracic dysplasia 10 with or without polydactyly		IAGP		8554872	ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly	ClinVar	PMID:28492532

Gene Symbol:	KRTCAP3
Accession:	NM_001168364
Location:	3UTRS;EXON

Gene Symbol:	IFT172
Accession:	NM_015662
Location:	INTRON

Gene Symbol:	KRTCAP3
Accession:	NM_173853
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_006711986
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_006711987
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_011532759
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_011532760
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_011532758
Location:	INTRON

Gene Symbol:	KRTCAP3
Accession:	NM_001321325
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_047443900
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_047443902
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_047443901
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_047443904
Location:	INTRON

Gene Symbol:	IFT172
Accession:	XM_047443903
Location:	INTRON

Gene Symbol:	KRTCAP3
Accession:	XM_047443704
Location:	INTRON

Gene Symbol:	IFT172
Accession:	NM_001410739
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002893915	CLINVAR
MedGen	C3810175	CLINVAR
NCBI Gene	IFT172	CLINVAR
	KRTCAP3	CLINVAR
OMIM	607386	CLINVAR
	615630	CLINVAR
	616394	CLINVAR
	619261	CLINVAR