ClinVar

NM_001278116.2(L1CAM):c.3458-139G>A

Gene:

L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153863688 (on Assembly GRCh38)
• ChrX: 153129143 (on Assembly GRCh37)

Preferred name:

NM_001278116.2(L1CAM):c.3458-139G>A

HGVS:

• NC_000023.11:g.153863688C>T
• NG_009645.4:g.27486G>A
• NM_000425.5:c.3458-139G>A
• NM_001143963.2:c.3443-139G>A
• NM_001278116.2:c.3458-139G>AMANE SELECT
• NM_024003.3:c.3458-139G>A
• LRG_14t1:c.3458-139G>A
• LRG_14t2:c.3458-139G>A
• LRG_14:g.27486G>A
• NC_000023.10:g.153129143C>T
• NG_009645.3:g.50536G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs56328570

NCBI 1000 Genomes Browser:

rs56328570

Molecular consequence:

• NM_000425.5:c.3458-139G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001143963.2:c.3443-139G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001278116.2:c.3458-139G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_024003.3:c.3458-139G>A - intron variant - [Sequence Ontology: SO:0001627]