RPL36A-HNRNPH2

RPL36A-HNRNPH2 readthrough

Basic information

Region (hg38): X:101391011-101412297

Links

ENSG00000257529 ∙ NCBI:100529097 ∙ ∙ HGNC:48349 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL36A-HNRNPH2 gene.

• Angiokeratoma corporis diffusum (701 variants)
• not provided (383 variants)
• Cardiovascular phenotype (109 variants)
• not specified (88 variants)
• Migalastat response (46 variants)
• Cardiomyopathy (21 variants)
• GLA-related condition (12 variants)
• Hypertrophic cardiomyopathy (9 variants)
• Fabry disease, cardiac variant (7 variants)
• Primary familial hypertrophic cardiomyopathy (6 variants)
• - (3 variants)
• Angiokeratoma corporis diffusum;Hypertrophic cardiomyopathy (3 variants)
• Hypertrophic cardiomyopathy 1 (2 variants)
• Intellectual disability, X-linked, syndromic, Bain type (1 variants)
• Stroke (1 variants)
• Nephrotic syndrome (1 variants)
• Sudden unexplained death (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL36A-HNRNPH2 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	1

Highest pathogenic variant AF is 0.00000893871

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL36A-HNRNPH2	protein_coding	protein_coding	ENST00000409170	5	21287

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.364	0.590	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.951	28	46.2	0.606	0.00000322	842
Missense in Polyphen		0	2.9267	0		96
Synonymous	-0.579	20	17.0	1.18	0.00000118	229
Loss of Function	1.57	1	4.67	0.214	2.94e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

• ghis: 0.414

Gene ontology

• Biological process: translation
• Cellular component: endoplasmic reticulum;cytosol;plasma membrane;cytosolic large ribosomal subunit
• Molecular function: structural constituent of ribosome