chr1:102978751:C>A Detail (hg38) (COL11A1)

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

Genome

Assembly	Position
hg19	chr1:103,444,307-103,444,307 View the variant detail on this assembly version.
hg38	chr1:102,978,751-102,978,751

HGVS

COL11A1

Type	Transcript	Protein
RefSeq	NM_001190709.1:c.2594G>T	NP_001177638.1:p.Gly865Val
	NM_080629.2:c.2747G>T	NP_542196.2:p.Gly916Val
	NM_001854.3:c.2711G>T	NP_001845.3:p.Gly904Val
	NR_134980.1:c.2711G>T
	NM_080630.3:c.2363G>T	NP_542197.3:p.Gly788Val
Ensemble	ENST00000353414.8:c.2594G>T	ENST00000353414.8:p.Gly865Val
	ENST00000358392.6:c.2747G>T	ENST00000358392.6:p.Gly916Val
	ENST00000370096.9:c.2711G>T	ENST00000370096.9:p.Gly904Val
	ENST00000512756.5:c.2363G>T	ENST00000512756.5:p.Gly788Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

COL11A1

Type	Database	ID	Link
Gene	MIM	120280	OMIM
	HGNC	2186	HGNC
	Ensembl	ENSG00000060718	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2020-07-10	criteria provided, single submitter	Hearing loss, autosomal dominant 37	inherited	Detail
Uncertain significance	2020-07-10	criteria provided, single submitter	Marshall syndrome	inherited	Detail
Uncertain significance	2020-07-10	criteria provided, single submitter	Stickler syndrome type 2	inherited	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) AND Hearing loss, autosomal dominant 37	ClinVar	Detail
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) AND Marshall syndrome	ClinVar	Detail
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) AND Stickler syndrome type 2	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: rs2101679210 dbSNP
Genome: hg38
Position: chr1:102,978,751-102,978,751
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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