ClinVar

NM_000228.3(LAMB3):c.1515C>A (p.Gly505=)

Gene:

LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.2

Genomic location:

• Chr1: 209626949 (on Assembly GRCh38)
• Chr1: 209800294 (on Assembly GRCh37)

Preferred name:

NM_000228.3(LAMB3):c.1515C>A (p.Gly505=)

HGVS:

• NC_000001.11:g.209626949G>T
• NG_007116.1:g.30527C>A
• NM_000228.3:c.1515C>AMANE SELECT
• NM_001017402.2:c.1515C>A
• NM_001127641.1:c.1515C>A
• NP_000219.2:p.Gly505=
• NP_001017402.1:p.Gly505=
• NP_001121113.1:p.Gly505=
• NC_000001.10:g.209800294G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1431872330

NCBI 1000 Genomes Browser:

rs1431872330

Molecular consequence:

• NM_000228.3:c.1515C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001017402.2:c.1515C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127641.1:c.1515C>A - synonymous variant - [Sequence Ontology: SO:0001819]