Chain1440: Severe Combined Immunodeficiency, T Cell-negative, B Cell-positive, NK Cell-positive

This is a rare disease.

Example use A

Rare disease screening of newborns or adults thinking of having children. Could also be used as part of a comprehensive analysis of a person's genes.

Developer

Dr. Colby

Genetic info

GenesGenetic variants
IL7Rchr5:35871172,rs1494555
PTPRCchr1:198687432
CD3Dchr11:118211162,chr11:118210617,chr11:118210623

Qualitative

Type

text

Possible responses

Carrier, Possibly Affected, Not Detected, insufficient data, error