Allele Registry

Canonical Allele Identifier: CA587570153

Gene: RMRP HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Likely Pathogenic

Condition cartilage-hair hypoplasia

VCEP Severe Combined Immunodeficiency Disease VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.35657753_35657762del

GRCh37 chr9:g.35657750_35657759del

Linked Data - Sequence & Population

gnomAD v2:

9:35657749 CAGCCGCGCTG / C

gnomAD v3:

9:35657752 CAGCCGCGCTG / C

gnomAD v4:

chr9-35657752-CAGCCGCGCTG-C

Joint Max Group AF 0.00066552 (AMR)

Genomes Max Group AF 0.00017002 (AMR)

Exomes Max Group AF 0.00081058 (AMR)

Linked Data - NCBI & NCI

ClinVar Allele:

459199

ClinVar RCV:

RCV000015297

RCV000527817

RCV001273824

RCV002497125

RCV003905394

ClinVar Variation:

465208

dbSNP:

1383432106

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657755_35657764del , CM000671.2:g.35657755_35657764del	GRCh38
NC_000009.11:g.35657752_35657761del , CM000671.1:g.35657752_35657761del	GRCh37
NC_000009.10:g.35647752_35647761del	NCBI36
NG_017041.1:g.5257_5266del , LRG_163:g.5257_5266del
NG_033120.1:g.4466_4475del

Transcript Alleles

HGVS	Amino-acid Change
NR_003051.3:n.257_266del , LRG_163t1:n.257_266del

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Search 100 bp 3'