ClinVar

NM_000211.5(ITGB2):c.1877+5G>A

Gene:

ITGB2:integrin subunit beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44889271 (on Assembly GRCh38)
• Chr21: 46309186 (on Assembly GRCh37)

Preferred name:

NM_000211.5(ITGB2):c.1877+5G>A

HGVS:

• NC_000021.9:g.44889271C>T
• NG_007270.2:g.44568G>A
• NM_000211.5:c.1877+5G>AMANE SELECT
• NM_001127491.3:c.1877+5G>A
• NM_001303238.2:c.1670+5G>A
• LRG_76:g.44568G>A
• NC_000021.8:g.46309186C>T
• NM_000211.4:c.1877+5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs751247289

NCBI 1000 Genomes Browser:

rs751247289

Molecular consequence:

• NM_000211.5:c.1877+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127491.3:c.1877+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001303238.2:c.1670+5G>A - intron variant - [Sequence Ontology: SO:0001627]