Full data view for gene TMC1


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_138691.2 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - 0/320 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kurima 2002 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kurima 2002 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Kitajiri 2007 - rs121908073 Germline - 0/772 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Kitajiri 2007 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Tlili 2008 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Tlili 2008 proband F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Tlili 2008 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Tlili 2008 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Tlili 2008 proband F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Tlili 2008 - rs121908073 Germline - 0/200 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Tlili 2008 Proband F - Tunisia - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Proband M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Proband M - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Proband M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Proband M - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Hilgert 2008 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Hilgert 2008 Relative F - Jordan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Sirmaci 2009 - rs121908073 Germline - 0/190 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Sirmaci 2009 Proband M - Turkey - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Sirmaci 2009 - rs121908073 Germline - 0/190 controls -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Sirmaci 2009 Proband M - Turkey - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Ben Saïd 2010 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Ben Saïd 2010 Proband - - Algeria - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Ben Saïd 2010 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Ben Saïd 2010 Proband - - Algeria - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Ben Saïd 2010 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Ben Saïd 2010 Proband - - Algeria - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Ben Saïd 2010 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Ben Saïd 2010 Proband - - Algeria - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Ben Saïd 2010 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - Healthy/Control - PubMed: Ben Saïd 2010 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Ben Saïd 2010 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - Healthy/Control - PubMed: Ben Saïd 2010 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Searle 2012 - rs121908073 Germline - - -MnlI;-TaqI - - DNA PCRdig - - DFNB - PubMed: Searle 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Searle 2012 - rs121908073 Germline - - -MnlI;-TaqI - - DNA PCRdig - - DFNB - PubMed: Searle 2012 Proband - - United Kingdom (Great Britain) - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Extracellular 2 (387-440) Paternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Ganapathy 2014 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Ganapathy 2014 Proband - - India - - - - - 1 Anne-Françoise Roux
+/+ 7 c.100C>T r.(?) p.(Arg34*) Extracellular 2 (387-440) Maternal (inferred) - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 homozygous; Pathogenic PubMed: Ganapathy 2014 - rs121908073 Germline - - -MnlI;-TaqI - - DNA SEQ - - DFNB - PubMed: Ganapathy 2014 Proband - - India - - - - - 1 Anne-Françoise Roux
+/. - c.100C>T r.(?) p.(Arg34*) - Parent #1 - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908073 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.100C>T r.(?) p.(Arg34Ter) - Both (homozygous) - pathogenic (recessive) g.75309494C>T g.72694578C>T - - TMC1_000004 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4367 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.100C>T r.(?) p.(Arg34Ter) - Both (homozygous) - pathogenic (recessive) g.75309494C>T g.72694578C>T - - TMC1_000004 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1584 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.100C>T r.(?) p.(Arg34Ter) - Unknown - pathogenic g.75309494C>T g.72694578C>T - - TMC1_000004 ACMG PVS1, PM2_P, PM3, PP1_S PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB276-544 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
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