rs186031457

A SNP in the PCCB gene on chromosome 3. Its most notable genotype is T;T: Propionic acidemia likely

Gene
PCCB
Location
Chr 3136,256,588 (GRCh38)
Highest magnitude
7.7Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TBadCarrier of a pathogenic mutation for propionic acidemiaImportant · 3.0
  3. T;TMost notableBadPropionic acidemia likelyVery important · 7.7

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

Other PCCB SNPs

All PCCB SNPs

Notes

From SNPedia

Notes

rs186031457, also known as c.337C>T, p.Arg113Ter and R113X, represents a rare mutation in the PCCB gene on chromosome 3. The minor allele is reported by a single submitter in ClinVar as being pathogenic for propionic acidemia, a recessively inherited condition.

C;T

Unaffected in absence of a second pathogenic mutation elsewhere in the PCCB gene; see discussion at rs186031457

T;T

see rs186031457

Source and license

Adapted from rs186031457 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.