chr5:112839401:AT> Detail (hg38) (APC)

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

Genome

Assembly	Position
hg19	chr5:112,175,098-112,175,099
hg38	chr5:112,839,401-112,839,402

HGVS

APC

Type	Transcript	Protein
RefSeq	NM_001127510.2:c.3807_3808delAT	NP_001120982.1:p.Ile1269MetfsTer6
	NM_000038.5:c.3807_3808delAT	NP_000029.2:p.Ile1269MetfsTer6
	NM_001127511.2:c.3753_3754delAT	NP_001120983.2:p.Ile1251MetfsTer6
Ensemble	ENST00000508376.6:c.3807_3808delAT	ENST00000508376.6:p.Ile1269MetfsTer6
	ENST00000509732.6:c.3807_3808delAT	ENST00000509732.6:p.Ile1269MetfsTer6
	ENST00000512211.7:c.3807_3808delAT	ENST00000512211.7:p.Ile1269MetfsTer6
	ENST00000713638.1:c.1789_1790delAT
	ENST00000713639.1:c.3489_3490delAT	ENST00000713639.1:p.Ile1163MetfsTer6
	ENST00000257430.9:c.3807_3808delAT	ENST00000257430.9:p.Ile1269MetfsTer6
	ENST00000504915.3:c.3861_3862delAT	ENST00000504915.3:p.Ile1287MetfsTer6
	ENST00000507379.6:c.3753_3754delAT	ENST00000507379.6:p.Ile1251MetfsTer6

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

APC

Type	Database	ID	Link
Gene	MIM	611731	OMIM
	HGNC	583	HGNC
	Ensembl	ENSG00000134982	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM19275	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	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: rs786203760 dbSNP
Genome: hg38
Position: chr5:112,839,401-112,839,402
Variant Type: snv
Reference Allele: AT
Alternative Allele: -

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