chrX:53211544:C>T Detail (hg38) (KDM5C)

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

Genome

Assembly	Position
hg19	chrX:53,240,726-53,240,726 View the variant detail on this assembly version.
hg38	chrX:53,211,544-53,211,544

HGVS

KDM5C

Type	Transcript	Protein
RefSeq	NM_001282622.1:c.1354G>A	NP_001269551.1:p.Gly452Ser
	NM_004187.3:c.1354G>A	NP_004178.2:p.Gly452Ser
	NM_001146702.1:c.1153G>A	NP_001140174.1:p.Gly385Ser
Ensemble	ENST00000375379.7:c.1354G>A	ENST00000375379.7:p.Gly452Ser
	ENST00000375383.7:c.1231G>A	ENST00000375383.7:p.Gly411Ser
	ENST00000375401.8:c.1354G>A	ENST00000375401.8:p.Gly452Ser
	ENST00000404049.7:c.1351G>A	ENST00000404049.7:p.Gly451Ser
	ENST00000452825.7:c.1153G>A	ENST00000452825.7:p.Gly385Ser
	ENST00000685641.1:c.1354G>A	ENST00000685641.1:p.Gly452Ser
	ENST00000688699.1:c.1354G>A	ENST00000688699.1:p.Gly452Ser
	ENST00000691505.1:c.1354G>A	ENST00000691505.1:p.Gly452Ser
	ENST00000693277.1:c.859G>A	ENST00000693277.1:p.Gly287Ser

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

KDM5C

Type	Database	ID	Link
Gene	MIM	314690	OMIM
	HGNC	11114	HGNC
	Ensembl	ENSG00000126012	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000073 (TMGS000167)	Kenjiro Kosaki	Keio University IRUD

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2020-01-21	criteria provided, single submitter	syndromic X-linked intellectual disability Claes-Jensen type	unknown	Detail
Uncertain significance	2021-02-23	criteria provided, single submitter	Spastic paraplegia	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) AND Syndromic X-linked intellectual disability Claes-Jens...	ClinVar	Detail
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) AND Spastic paraplegia	ClinVar	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: rs2073559814 dbSNP
Genome: hg38
Position: chrX:53,211,544-53,211,544
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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