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Table 3 Variants of LHX1 with allele frequencies

From: TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

Varianta

rs numberb

Location in LHX1

Genotype of patientsd

Genotype of controlsd

Predicted change

  

N=112

N= 180

g.35295505G>C

-

exon 1

GG: 111 (99.1%)

GG: 180 (100%)

p.Cys4Ser

  

GC: 1 (0.9%)

GC: 0 (0%)

   

CC: 0 (0%)

CC: 0 (0%)

g.35300142C>A

-

exon 5

CC: 109 (97.3%)

CC: 180 (100%)

p.Pro312His

  

CA: 3 (2.7%)

CA: 0 (0%)

   

AA: 0 (0%)

AA: 0 (0%)

g.35300202C>G

TMP_ESP_17_35300202c

exon 5

CC: 111 (99.1%)

CC: 180 (100%)

p.Arg332Pro

  

CG: 1 (0.9%)

CG: 0 (0%)

   

GG: 0 (0%)

GG: 0 (0%)

  1. avariations presented according to genomic reference sequence (g.) NC_000017.10, coding DNA reference sequence (c.) NM_005568.3 and/or protein reference sequence (p.) NP_005559.2, Genome Build 37.3, dbSNP [52].
  2. brs numbers for previously known SNPs according to dbSNP [52] or Exome Variant Server (EVS) [54].
  3. cone allele of 12783 reported in EVS [54].
  4. dnumber of genotypes reported as: reference allele/reference allele; reference allele/alternative allele; alternative allele/alternative allele.