SLC44A4 solute carrier family 44 member 4

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: SLC44A4
Type: protein-coding
Description: solute carrier family 44 member 4
Entrez Gene ID: 80736
Genome: hg19
Position: chr6:31,830,969-31,846,774
Genome: hg38
Position: chr6:31,863,192-31,878,997
MIM: 606107 OMIM
HGNC: HGNC:13941 HGNC
Ensembl: ENSG00000204385 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	110
Likely benign	0	138
Conflicting classifications of pathogenicity	0	2
not provided	10	0
Uncertain significance	0	174

Ranking

	ClinVar
	0
	0
	58
	356
	2

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

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

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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

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Target data	:	MGeND data only
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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	C6orf29
SYNONYM	CTL4
SYNONYM	DFNA72
SYNONYM	NG22
SYNONYM	TPPT
SYNONYM	hTPPT1
MIM	606107 OMIM
HGNC	HGNC:13941 HGNC
Ensembl	ENSG00000204385 Ensembl
AllianceGenome	HGNC:13941

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000229729.11	hg38	chr6	31,863,192	31,878,997	15,806
ENST00000375562.8	hg38	chr6	31,863,195	31,879,046	15,852
ENST00000544672.5	hg38	chr6	31,863,195	31,877,671	14,477
ENST00000229729.11	hg19	chr6	31,830,969	31,846,774	15,806
ENST00000544672.5	hg19	chr6	31,830,972	31,845,448	14,477
ENST00000375562.8	hg19	chr6	31,830,972	31,846,823	15,852

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