Have questions? Visit https://www.reddit.com/r/SNPedia

HMBS

From SNPedia

is agene
is mentioned by
Full namehydroxymethylbilane synthase
EntrezGene3145
PheGenI3145
VariationViewer3145
ClinVarHMBS
GeneCardsHMBS
dbSNP3145
DiseasesHMBS
SADR3145
HugeNav3145
wikipediaHMBS
googleHMBS
gopubmedHMBS
EVSHMBS
HEFalMpHMBS
MyGene2HMBS
23andMeHMBS
UniProtP08397
EnsemblENSG00000256269
OMIM609806
# SNPs32
 Max MagnitudeChromosome positionSummary
rs10575188060
rs10575188865
rs1057521126
rs1182040945119,089,991
rs1182040955119,091,414
rs1182040965119,091,432
rs1182040975119,090,230
rs1182040985119,090,213
rs1182040995119,092,486
rs1182041005119,091,507
rs1182041015119,091,413
rs1182041035119,088,298
rs1182041045119,088,638
rs1182041055119,088,647
rs1182041065119,089,084
rs1182041075119,089,747
rs1182041085119,091,444
rs1182041095119,091,515
rs1182041105119,092,419
rs1182041115119,092,491
rs1182041125119,092,500
rs1182041135119,092,506
rs1182041145119,092,507
rs1182041155119,092,518
rs1182041165119,092,159
rs1182041175119,092,958
rs1182041184119,085,034
rs1182041195119,089,248
rs1182041205119,090,212
rs344136345119,091,497
rs5368143184.4119,091,446
rs767103817


HMBS codes for the hydroxymethylbilane synthase enzyme, which is the 3rd of 8 steps necessary to producing vital heme molecules [1]. Defects in HMBS cause acute intermittent porphyria (AIP), with over 300 such mutations apparently identified. Many of the mutations are unique and are not listed in public databases.

A ClinGen Actionability summary (see Actionability (ClinGen)) providing recommendations for individuals with an AIP-associated HMBS mutation is available here.