DoCM - Database of Curated Mutations

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Variant Data

Location

HGVS: ENST00000326873:c.200T>C
Reference Version: GRCh37
Chromosome: 19
Start: 1207112
Stop: 1207112
Strand: 1
Transcript: ENST00000326873 (ensembl - 74_37)
Gene: STK11 ( View drug interactions on DGIdb )

Information

Reference: T
Variant: C
Amino Acid: p.L67P
Mutation Type: missense
Variant Type: SNV (SO:0001483)
cDNA Change: c.200
Tags: inactivating likely pathogenic

Disease Data

Disease	Source	Batch	Tags	External Links
Peutz-Jeghers syndrome	Mehenni et al., 1998, Am. J. Hum. Genet.	Kin-Driver (View variants)	inactivating likely pathogenic

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