SMIM29 small integral membrane protein 29

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: SMIM29
Type: protein-coding
Description: small integral membrane protein 29
Entrez Gene ID: 221491
Genome: hg19
Position: chr6:34,214,172-34,216,766
Genome: hg38
Position: chr6:34,246,395-34,248,989
MIM: 611419 OMIM
HGNC: HGNC:1340 HGNC
Ensembl: ENSG00000186577 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely benign	0	4
Uncertain significance	0	10

Ranking

	ClinVar
	0
	0
	0
	14
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	C6orf1
SYNONYM	LBH
MIM	611419 OMIM
HGNC	HGNC:1340 HGNC
Ensembl	ENSG00000186577 Ensembl
AllianceGenome	HGNC:1340

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000476320.6	hg38	chr6	34,246,395	34,249,006	2,612
ENST00000636500.1	hg38	chr6	34,246,381	34,249,108	2,728
ENST00000468145.1	hg38	chr6	34,246,485	34,248,989	2,505
ENST00000394990.8	hg38	chr6	34,246,395	34,249,040	2,646
ENST00000481533.5	hg38	chr6	34,246,395	34,248,989	2,595
ENST00000636500.1	hg19	chr6	34,214,158	34,216,885	2,728
ENST00000481533.5	hg19	chr6	34,214,172	34,216,766	2,595
ENST00000476320.6	hg19	chr6	34,214,172	34,216,783	2,612
ENST00000394990.8	hg19	chr6	34,214,172	34,216,817	2,646
ENST00000468145.1	hg19	chr6	34,214,262	34,216,766	2,505

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