ClinVar

NM_001017922.2(ERMAP):c.217C>T (p.Arg73Cys)

Gene:

ERMAP:erythroblast membrane associated protein (Scianna blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 42830899 (on Assembly GRCh38)
• Chr1: 43296570 (on Assembly GRCh37)

Preferred name:

NM_001017922.2(ERMAP):c.217C>T (p.Arg73Cys)

HGVS:

• NC_000001.11:g.42830899C>T
• NG_008749.1:g.18795C>T
• NM_001017922.2:c.217C>TMANE SELECT
• NM_018538.4:c.217C>T
• NP_001017922.1:p.Arg73Cys
• NP_061008.2:p.Arg73Cys
• LRG_806t1:c.217C>T
• LRG_806:g.18795C>T
• LRG_806p1:p.Arg73Cys
• NC_000001.10:g.43296570C>T
• NM_018538.3:c.217C>T

This HGVS expression did not pass validation

Protein change:

R73C

Molecular consequence:

• NM_001017922.2:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018538.4:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]