RGD:156363832 Rat Genome Database

RGD:156363832 Rat Genome Database

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Variant: RGD:156363832 - Homo sapiens

RGD ID:

156363832

ClinVar ID:

CV2262714

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	2	27,666,377
GRCh38	2	27,443,510

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001168364.2:c.593G>A NM_001321325.2:c.593G>A NM_173853.4:c.593G>A NG_034068.1:g.51302C>T More...	07/06/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	KRTCAP3
Accession:	NM_001321325
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRRCSLCAFDAARGPRRLMRVGLALILVGHVNLLLGAVLHGTVLRHVANPRGAVTPEYTVANVISVGSGLLSVSVGLVAL LASRNLLRPPLHWVLLALALVNLLLSVACSLGLLLAVSLTVANGGRRLIADCHPGLLDPLVPLDEGPGHTDCPFDPTRIY DTALALWIPSLLMSAGEAALSGYCCVAALTLRGVGPCKKDGLQGQLEEMTELESPKCKRQENEQLLDQNQEIRASQRSWV *

Gene Symbol:	KRTCAP3
Accession:	NM_001168364
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRRCSLCAFDAARGPRRLMRVGLALILVGHVNLLLGAVLHGTVLRHVANPRGAVTPEYTVANVISVGSGLLSVSVGLVAL LASRNLLRPPLHWVLLALALVNLLLSVACSLGLLLAVSLTVANGGRRLIADCHPGLLDPLVPLDEGPGHTDCPFDPTRIY DTALALWIPSLLMSAGEAALSGYCCVAALTLRGVGPCKKDGLQGQLEEMTELESPKCKRQENEQLLDQNQEIRASQRSWV *

Gene Symbol:	KRTCAP3
Accession:	NM_173853
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRRCSLCAFDAARGPRRLMRVGLALILVGHVNLLLGAVLHGTVLRHVANPRGAVTPEYTVANVISVGSGLLSVSVGLVAL LASRNLLRPPLHWVLLALALVNLLLSVACSLGLLLAVSLTVANGGRRLIADCHPGLLDPLVPLDEGPGHTDCPFDPTRIY DTALALWIPSLLMSAGEAALSGYCCVAALTLRGVGPCKKDGLQGQLEEMTELESPKCKRQENEQLLDQNQEIRASQRSWV *

Gene Symbol:	KRTCAP3
Accession:	XM_047443704
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRRCSLCAFDAARGPRRLMRVGLALILVGHVNLLLGAVLHGTVLRHVANPRGAVTPEYTVANVISVGSGLLSVSVGLVAL LASRNLLRPPLHWVLLALALVNLLLSVACSLGLLLAVSLTVANGGRRLIADCHPGLLDPLVPLDEGPGHTDCPFDPTRIY DTALALWIPSLLMSAGEAALSGYCCVAALTLRGVGPCKKDGLQGQLEEMTELESPKCKRQENEQLLDQNQEIRASQRSWV *

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004130900	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	KRTCAP3	CLINVAR
OMIM	619261	CLINVAR