{"type":"entrez-nucleotide","attrs":{"text":"NM_017890.4","term_id":"384551660","term_text":"NM_017890.4"}}NM_017890.4:c.6879delT
Case# RQMR10_V-2
Demographics: Female, 20 yrs at report,
CasePresentingHPOs HP:0000729, HP:0001763, HP:0001761, HP:0001956, HP:0000577
CaseNotHPOs
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CaseGenotypingMethod
Variant NM_017890.4:c.6879delT(p.Phe2293Leufs*24)
ClinVar
CAID CA4824093
gnomAD 0.00003250 (South Asian)
VariantEvidence The proband is homozygous for the variant. This variant introduces a frameshift, resulting in premature protein truncation. The variant was found to cosegregate with disease in the family and was not found in 293 healthy ethnicity-matched controls. It is reported in a heterozygous state at a frequency of 0.00003250 in South Asians in gnomAD.
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