ClinVar

NM_000426.4(LAMA2):c.3604C>T (p.Leu1202=)

Gene:

LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.33

Genomic location:

• Chr6: 129315524 (on Assembly GRCh38)
• Chr6: 129636669 (on Assembly GRCh37)

Preferred name:

NM_000426.4(LAMA2):c.3604C>T (p.Leu1202=)

HGVS:

• NC_000006.12:g.129315524C>T
• NG_008678.1:g.437384C>T
• NM_000426.4:c.3604C>TMANE SELECT
• NM_001079823.2:c.3604C>T
• NP_000417.2:p.Leu1202=
• NP_000417.3:p.Leu1202=
• NP_001073291.2:p.Leu1202=
• LRG_409t1:c.3604C>T
• LRG_409:g.437384C>T
• LRG_409p1:p.Leu1202=
• NC_000006.11:g.129636669C>T
• NM_000426.3:c.3604C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000426.4:c.3604C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079823.2:c.3604C>T - synonymous variant - [Sequence Ontology: SO:0001819]