NM_018489.2:c.1043C>G

Report protein consequencep.Pro348Arg

Normalized MANE/map notationNM_018489.3:c.1043C>G · NP_060959.2:p.Pro348Arg — The reviewed report uses NM_018489.2. NM_018489.2 and MANE Select NM_018489.3 use the same coding coordinate here, so c.1043C>G and p.Pro348Arg map 1:1.

A boy in the 6–10 age group with developmental and communication differences, autism, difficult-to-control epilepsy, sleep requiring medication, a major episode of lost leg movement followed by recovery of walking, persistent gait and leg-pain concerns, early color-restricted eating, ongoing oral pain and gum bleeding, constipation, heat-associated seizure worsening, and nail changes.

ASH1L LONGITUDINAL CASE PROFILE

Report transcript + cDNA

NM_018489.2:c.1043C>G

Report protein consequencep.Pro348Arg

Report field	Result
Gene	ASH1L
Genomic coordinate	chr1:155451618; genome assembly not stated
Transcript used by the laboratory	NM_018489.2

NM_018489.2:c.1043C>G

NM_018489.2:c.1043C>G

Who he is

Expanded epilepsy-panel result

What the genetic result does and does not establish

Development, autism, and communication

Seizure onset and changing event types

December 2020 neurology referral

March 2021 emergency presentation

EEGs, imaging, and broader neurologic workup

Fainting, unconsciousness, chest-area pain, and heat

Sleep and current reported medications

Twenty-day hospitalization and loss of leg movement

Wheelchair period and return to walking

Current gait, left-sided difference, and leg pain

Severe early food selectivity and later improvement

Gum bleeding, tooth pain, and toothbrushing

Constipation

Head and forehead observations

Fingernails and toenails

School, function, and family care

The whole person