ClinVar

NM_000651.6(CR1):c.2365C>A (p.Arg789Ser)

Gene:

CR1:complement C3b/C4b receptor 1 (Knops blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.2

Genomic location:

• Chr1: 207545436 (on Assembly GRCh38)
• Chr1: 207718781 (on Assembly GRCh37)

Preferred name:

NM_000651.6(CR1):c.2365C>A (p.Arg789Ser)

HGVS:

• NC_000001.11:g.207545436C>A
• NG_007481.1:g.54309C>A
• NM_000651.6:c.2365C>AMANE SELECT
• NM_001381851.1:c.1015C>A
• NP_000642.3:p.Arg789Ser
• NP_001368780.1:p.Arg339Ser
• LRG_814t1:c.2365C>A
• LRG_814:g.54309C>A
• LRG_814p1:p.Arg789Ser
• NC_000001.10:g.207718781C>A

This HGVS expression did not pass validation

Protein change:

R339S

Molecular consequence:

• NM_000651.6:c.2365C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381851.1:c.1015C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2