HRURF

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 19122663; 20659777; 20814945

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HRURF variants in ClinVar

3 Conditions Cataloged

not providedTotal: 9

Hypotrichosis 4Total: 5

HR-related disorderTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001394132.1. Only rare variants are included.

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			1 clinvar			1
missense	2 clinvar	1 clinvar	1 clinvar			4
nonsense	1 clinvar	1 clinvar	2 clinvar			4
start loss	4 clinvar	1 clinvar				5
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	7	3	4	0	0	14

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001394132.1	RefSeq	NP_001381061.1	1	MANE Select
ENST00000518377.3	Ensembl	ENSP00000505144.1	1	MANE Select