ClinVar

NM_006439.5(MAB21L2):c.498T>G (p.Tyr166Ter)

Genes:

LRBA:LPS responsive beige-like anchor protein [Gene - OMIM - HGNC]
MAB21L2:mab-21 like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q31.3

Genomic location:

• Chr4: 150583527 (on Assembly GRCh38)
• Chr4: 151504679 (on Assembly GRCh37)

Preferred name:

NM_006439.5(MAB21L2):c.498T>G (p.Tyr166Ter)

HGVS:

• NC_000004.12:g.150583527T>G
• NG_032855.1:g.436971A>C
• NG_042314.1:g.6603T>G
• NM_001199282.2:c.6330+4521A>C
• NM_001364905.1:c.6330+4521A>CMANE SELECT
• NM_001367550.1:c.6330+4521A>C
• NM_006439.5:c.498T>GMANE SELECT
• NM_006726.4:c.6363+4521A>C
• NP_006430.1:p.Tyr166Ter
• LRG_1324t1:c.6330+4521A>C
• LRG_1324:g.436971A>C
• NC_000004.11:g.151504679T>G

This HGVS expression did not pass validation

Protein change:

Y166*

Molecular consequence:

• NM_001199282.2:c.6330+4521A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364905.1:c.6330+4521A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367550.1:c.6330+4521A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_006726.4:c.6363+4521A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_006439.5:c.498T>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1