ClinVar

NM_001367977.2(SCUBE2):c.1670G>A (p.Arg557His)

Genes:

NRIP3-DT:NRIP3 divergent transcript [Gene - HGNC]
SCUBE2:signal peptide, CUB domain and EGF like domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 9048068 (on Assembly GRCh38)
• Chr11: 9069615 (on Assembly GRCh37)

Preferred name:

NM_001367977.2(SCUBE2):c.1670G>A (p.Arg557His)

HGVS:

• NC_000011.10:g.9048068C>T
• NM_001170690.3:c.1331-506G>A
• NM_001330199.3:c.1583G>A
• NM_001367977.2:c.1670G>AMANE SELECT
• NM_020974.4:c.1670G>A
• NP_001317128.1:p.Arg528His
• NP_001354906.1:p.Arg557His
• NP_066025.2:p.Arg557His
• NC_000011.9:g.9069615C>T
• NM_020974.2:c.1670G>A

This HGVS expression did not pass validation

Protein change:

R528H

Molecular consequence:

• NM_001170690.3:c.1331-506G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330199.3:c.1583G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367977.2:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020974.4:c.1670G>A - missense variant - [Sequence Ontology: SO:0001583]