chr2:232768790:G>A Detail (hg38) (KCNJ13, GIGYF2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr2:233,633,500-233,633,500 View the variant detail on this assembly version.
hg38	chr2:232,768,790-232,768,790

HGVS

GIGYF2
KCNJ13

Type	Transcript	Protein
RefSeq	NM_001103146.1:c.532+7354G>A
	NM_001103148.1:c.532+7354G>A
	NR_103492.1:c.532+7354G>A
	NM_001103147.1:c.532+7354G>A
	NM_015575.3:c.532+7354G>A
Ensemble	ENST00000373563.9:c.532+7354G>A
	ENST00000409196.7:c.532+7354G>A
	ENST00000409451.7:c.532+7354G>A
	ENST00000409480.5:c.532+7354G>A
	ENST00000409547.5:c.532+7354G>A
	ENST00000629305.2:c.532+7354G>A
	ENST00000677591.1:c.-195+4180G>A
	ENST00000678466.1:c.-213+531G>A

Type	Transcript	Protein
RefSeq	NM_001172416.1:c.484C>T	NP_001165887.1:p.Arg162Trp
	NM_001172417.1:c.484C>T	NP_001165888.1:p.Arg162Trp
	NM_002242.4:c.484C>T	NP_002233.2:p.Arg162Trp
	NM_001172416.1:c.248C>T	NP_001165887.1:p.Pro83Leu
Ensemble	ENST00000233826.4:c.484C>T	ENST00000233826.4:p.Arg162Trp
	ENST00000409779.1:c.248C>T	ENST00000409779.1:p.Pro83Leu
	ENST00000410029.1:c.484C>T	ENST00000410029.1:p.Arg162Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

GIGYF2
KCNJ13

Type	Database	ID	Link
Gene	MIM	612003	OMIM
	HGNC	11960	HGNC
	Ensembl	ENSG00000204120	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6453577	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	603208	OMIM
	HGNC	6259	HGNC
	Ensembl	ENSG00000115474	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6453577	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-05-05	criteria provided, multiple submitters, no conflicts	snowflake vitreoretinal degeneration	germline	Detail
Pathogenic	2022-10-24	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	snowflake vitreoretinal degeneration	A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 16...	BeFree	23255580	Detail
<0.001	Vitreoretinal degeneration	These results indicate that the KCNJ13 R162W mutation can cause SVD and further ...	BeFree	18179896	Detail
0.361	snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights ...	BeFree	23977131	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) AND Snowflake vitreoretinal degeneration	ClinVar	Detail
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) AND not provided	ClinVar	Detail
A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 ...	DisGeNET	Detail
These results indicate that the KCNJ13 R162W mutation can cause SVD and further show that vitreoreti...	DisGeNET	Detail
Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion chan...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121918542 dbSNP
Genome: hg38
Position: chr2:232,768,790-232,768,790
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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