rs1057519287

A SNP in the MECR gene on chromosome 1. Its most notable genotype is -;AATC: Carrier of a MEPAN syndrome mutation

Gene
MECR
Location
Chr 129,216,612 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;AATCMost notableBadCarrier of a MEPAN syndrome mutationImportant · 3.0
  2. AATC;AATCGoodcommon in clinvarTypical · 0.0

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

Other MECR SNPs

All MECR SNPs

Notes

From SNPedia

Notes

aka c.247_250delAATC (p.Asn83Hisfs) See MECR page for extensive discussion

-;AATC

Unaffected in absence of a second MECR gene mutation

Source and license

Adapted from rs1057519287 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.