rs387906709

A SNP in the UBQLN2 gene on chromosome X. Its most notable genotype is A;A: Amyotrophic lateral sclerosis, type 15

Gene
UBQLN2
Location
Chr X56,565,363 (GRCh38)
Highest magnitude
7.9Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadAmyotrophic lateral sclerosis, type 15Very important · 7.9
  2. A;CBadAmyotrophic lateral sclerosis, type 15Very important · 7.9
  3. C;CGoodcommon in clinvarTypical · 0.0
  4. C;TBadHeterogenous neurodegeneration disorderVery important · 7.9
  5. T;TBadHeterogeneous neurodegeneration disorderVery important · 7.9

On SNPedia: (A;A), (A;C), (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Show notes, about 160 words

Two causative, dominantly inherited mutations have been mapped to this location on the X chromosome: * c.1490C>A, p.Pro497His, P497H: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia * c.1490C>T, p.Pro497Leu, P497L: Heterogeneous neurodegeneration; ; news article about book by affected family here Due to being X-linked, males carrying either mutation typically exhibit an earlier age of onset than females, and to some extent, more severe symptoms (and higher penetrance). However, UBQLN2 mutation status does not always predict clinical outcome; very delayed or incomplete penetrance of UBQLN2 mutations altering the PXX repeat domain is sometimes observed in mutation carriers. Note: to our knowledge, this SNP is not tested by the major "$99" direct-to-consumer genotyping companies such as Ancestry.com or 23andMe, however, it is normally included in exome data such as that from Genos.

A;A

see rs387906709

A;C

see rs387906709

C;T

see rs387906709

T;T

see rs387906709

Source and license

Adapted from rs387906709 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.