ClinVar

NM_144573.4(NEXN):c.1252-5del

Gene:

NEXN:nexilin F-actin binding protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 77935811 (on Assembly GRCh38)
• Chr1: 78401503 (on Assembly GRCh37)

Preferred name:

NM_144573.4(NEXN):c.1252-5del

HGVS:

• NC_000001.11:g.77935818del
• NG_016625.1:g.52304del
• NM_001172309.2:c.1060-5del
• NM_144573.4:c.1252-5delMANE SELECT
• LRG_442:g.52304del
• NC_000001.10:g.78401503del

This HGVS expression did not pass validation

Links:

dbSNP: rs768326968

NCBI 1000 Genomes Browser:

rs768326968

Molecular consequence:

• NM_001172309.2:c.1060-5del - intron variant - [Sequence Ontology: SO:0001627]
• NM_144573.4:c.1252-5del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1