rs786205451

A SNP in the LAMB3 gene on chromosome 1. Its most notable genotype is T;T: Epidermolysis bullosa (predicted)

Gene
LAMB3
Location
Chr 1209,624,001 (GRCh38)
Highest magnitude
9.1Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadEpidermolysis bullosa (predicted)Very important · 9.1
  2. C;TBadCarrier of an epidermolysis bullosa mutationImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs786205451 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other LAMB3 SNPs

All LAMB3 SNPs

Notes

From SNPedia

Notes

rs786205451, also known as c.1977-1G>A, is a variant in the LAMB3 gene located on chromosome 1. The rs786205451(A) allele, when inherited recessively, is considered pathogenic in ClinVar for junctional epidermolysis bullosa (JEB). In 2017, a team of researchers reported the successful regeneration of a young JEB patient's skin using transgenic stem cells. The patient was homozygous for this mutation, i.e. carried the rs786205451(A;A) genotype.

T;T

See Epidermolysis bullosa and rs786205451 for more information.

C;T

Unaffected in absence of a second LAMB3 mutation; see Epidermolysis bullosa and rs786205451 for more information.

Source and license

Adapted from rs786205451 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.