MLDHR

Basic information

Region (hg38): 10:87863559-87863654

Links

ENSG00000289051

∙ ∙ ∙ HGNC:55481 ∙ ∙ ∙ 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 MLDHR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MLDHR 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			26 clinvar	1 clinvar		27
missense			53 clinvar		1 clinvar	54
nonsense			2 clinvar			2
start loss			3	1		4
frameshift			15 clinvar			15
splice donor/acceptor (+/-2bp)						0
Total	0	0	99	2	1

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP