MROH5

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			167 clinvar	18 clinvar		185
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	167	18	0	185

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000430863.5	Ensembl	ENSP00000431031.1	30	Standard
ENST00000521053.5	Ensembl	ENSP00000429433.1	2	Standard
ENST00000523857.5	Ensembl	ENSP00000427945.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: polymorphic_pseudogene
Transcript type: protein_coding
Transcript: ENST00000521161
Coding exons: 3
Length: 73402
Individuals with no LoFs: 123786
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 123787
p: 0.00000404

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.190	68	63.7	1.07	0.00000326	744
Missense (PolyPhen)		21	16.459	1.2759		200
Synonymous	0.0286	23	23.2	0.992	0.00000128	183
Loss of Function	0.385	3	3.81	0.787	1.61e-7	49

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000089	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 4.38
RVIS percentile EVS: 99.74

Essentials

Essential (CRISPR2): N