HMBS
From SNPedia
is a | gene |
is | mentioned by |
Full name | hydroxymethylbilane synthase |
EntrezGene | 3145 |
PheGenI | 3145 |
VariationViewer | 3145 |
ClinVar | HMBS |
GeneCards | HMBS |
dbSNP | 3145 |
Diseases | HMBS |
SADR | 3145 |
HugeNav | 3145 |
wikipedia | HMBS |
HMBS | |
gopubmed | HMBS |
EVS | HMBS |
HEFalMp | HMBS |
MyGene2 | HMBS |
23andMe | HMBS |
UniProt | P08397 |
Ensembl | ENSG00000256269 |
OMIM | 609806 |
# SNPs | 32 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs1057518806 | 0 | 119,093,155 | |
rs1057518886 | 5 | 119,090,045 | |
rs1057521126 | 0 | 119,092,785 | |
rs118204094 | 5 | 119,089,991 | |
rs118204095 | 5 | 119,091,414 | |
rs118204096 | 5 | 119,091,432 | |
rs118204097 | 5 | 119,090,230 | |
rs118204098 | 5 | 119,090,213 | |
rs118204099 | 5 | 119,092,486 | |
rs118204100 | 5 | 119,091,507 | |
rs118204101 | 5 | 119,091,413 | |
rs118204103 | 5 | 119,088,298 | |
rs118204104 | 5 | 119,088,638 | |
rs118204105 | 5 | 119,088,647 | |
rs118204106 | 5 | 119,089,084 | |
rs118204107 | 5 | 119,089,747 | |
rs118204108 | 5 | 119,091,444 | |
rs118204109 | 5 | 119,091,515 | |
rs118204110 | 5 | 119,092,419 | |
rs118204111 | 5 | 119,092,491 | |
rs118204112 | 5 | 119,092,500 | |
rs118204113 | 5 | 119,092,506 | |
rs118204114 | 5 | 119,092,507 | |
rs118204115 | 5 | 119,092,518 | |
rs118204116 | 5 | 119,092,159 | |
rs118204117 | 5 | 119,092,958 | |
rs118204118 | 4 | 119,085,034 | |
rs118204119 | 5 | 119,089,248 | |
rs118204120 | 5 | 119,090,212 | |
rs34413634 | 5 | 119,091,497 | |
rs536814318 | 4.4 | 119,091,446 | |
rs767103817 | 0 | 119,092,407 |
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.