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Table 1 Summary of total mutations identified in the FLCN gene by sequencing

From: Birt–Hogg–Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation

dbSNP

mRNA positiona

Location or △AAa

Allelesa

Minor Allele

MAF in CHB

rs1708629

c.-299

5′UTR

C > T

C

0.42

rs3744124

c.871 + 36

Intron 8

G > A

G

0.17

rs8065832

c.1062 + 6

Intron 9

C > T

C

0.66

p.F766S

c.2297

Exon 14

T > C

T

None

  1. △AA change in amino acid, MAF minor allele frequency, CHB samples from Han Chinese in Beijing, China studied in Hapmap project
  2. aReferenced to the positive strand and folliculin isoform 1 [GenBank: NM_144997]
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BMC Pulmonary Medicine

ISSN: 1471-2466

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