MROH7-TTC4

Chr 1

MROH7-TTC4 readthrough (NMD candidate)

Also known as: HEATR8-TTC4

This locus represents a read-through transcript between neighboring genes MROH7 and TTC4 that undergoes alternative splicing to produce multiple variants targeted for nonsense-mediated decay and is unlikely to produce functional protein products. No disease associations have been established for this read-through transcript based on the available information.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring MROH7 (maestro heat-like repeat family member 7) and TTC4 (tetratricopeptide repeat domain 4) genes. Alternative splicing results in multiple transcript variants, which are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to produce protein products. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…

Clinical Summary— MROH7-TTC4

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ClinVar Variants

246 VUS of 271 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

271 submitted variants in ClinVar

ClinVar

Classification Summary

VUS246

Likely Benign23

246

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	246	0	0	246
Likely Benign	17	1	5	23
Benign	0	0	0	0
Total	263	1	5	269

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

6 pathogenic / likely-pathogenic (of 6) ClinVar copy-number / structural variants overlap MROH7-TTC4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →