chr2:43837951:G>C Detail (hg38) (ABCG5)

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Information

Genome

Assembly	Position
hg19	chr2:44,065,090-44,065,090 View the variant detail on this assembly version.
hg38	chr2:43,837,951-43,837,951

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000405322.8:c.148C>G	ENST00000405322.8:p.Arg50Gly

Summary

Links

Type	Database	ID	Link
Gene	MIM	605459	OMIM
	HGNC	13886	HGNC
	Ensembl	ENSG00000138075	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv6681803	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.132	cholelithiasis	ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a va...	BeFree	24256507	Detail

Annotation

Descrption	Source	Links
ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously ass...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs6756629 dbSNP
Genome: hg38
Position: chr2:43,837,951-43,837,951
Variant Type: snv
Reference Allele: G
Alternative Allele: C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs6756629
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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