ClinVar

NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153869924 (on Assembly GRCh38)
• ChrX: 153135379 (on Assembly GRCh37)

Preferred name:

NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=)

HGVS:

• NC_000023.11:g.153869924G>A
• NG_009645.3:g.44300C>T
• NM_000425.5:c.1002C>T
• NM_001143963.2:c.987C>T
• NM_001278116.2:c.1002C>TMANE SELECT
• NM_024003.3:c.1002C>T
• NP_000416.1:p.Tyr334=
• NP_001137435.1:p.Tyr329=
• NP_001265045.1:p.Tyr334=
• NP_076493.1:p.Tyr334=
• LRG_14t1:c.1002C>T
• LRG_14t2:c.1002C>T
• LRG_14p1:p.Tyr334=
• LRG_14p2:p.Tyr334=
• NC_000023.10:g.153135379G>A
• NM_000425.3:c.1002C>T
• NM_000425.4:c.1002C>T
• p.Tyr334Tyr

This HGVS expression did not pass validation

Links:

dbSNP: rs73640833

NCBI 1000 Genomes Browser:

rs73640833

Molecular consequence:

• NM_000425.5:c.1002C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001143963.2:c.987C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278116.2:c.1002C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024003.3:c.1002C>T - synonymous variant - [Sequence Ontology: SO:0001819]