ACVR1C activin A receptor type 1C

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: ACVR1C
Type: protein-coding
Description: activin A receptor type 1C
Entrez Gene ID: 130399
Genome: hg19
Position: chr2:158,383,279-158,485,376
Genome: hg38
Position: chr2:157,526,767-157,628,864
MIM: 608981 OMIM
HGNC: HGNC:18123 HGNC
Ensembl: ENSG00000123612 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	60
Likely benign	0	6
Uncertain significance	0	36

Ranking

	ClinVar
	0
	0
	6
	96
	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

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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

Search Word

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	ACVRLK7
SYNONYM	ALK7
MIM	608981 OMIM
HGNC	HGNC:18123 HGNC
Ensembl	ENSG00000123612 Ensembl
AllianceGenome	HGNC:18123

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000409680.7	hg38	chr2	157,533,742	157,597,560	63,819
ENST00000335450.7	hg38	chr2	157,533,742	157,628,727	94,986
ENST00000348328.9	hg38	chr2	157,533,742	157,628,727	94,986
ENST00000243349.13	hg38	chr2	157,526,767	157,628,864	102,098
ENST00000243349.13	hg19	chr2	158,383,279	158,485,376	102,098
ENST00000409680.7	hg19	chr2	158,390,254	158,454,072	63,819
ENST00000335450.7	hg19	chr2	158,390,254	158,485,239	94,986
ENST00000348328.9	hg19	chr2	158,390,254	158,485,239	94,986

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