ClinVar

NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.33

Genomic location:

• Chr6: 129353232 (on Assembly GRCh38)
• Chr6: 129674377 (on Assembly GRCh37)

Preferred name:

NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg)

HGVS:

• NC_000006.12:g.129353232C>G
• NG_008678.1:g.475092C>G
• NM_000426.4:c.4592C>GMANE SELECT
• NM_001079823.2:c.4592C>G
• NP_000417.3:p.Pro1531Arg
• NP_001073291.2:p.Pro1531Arg
• LRG_409t1:c.4592C>G
• LRG_409:g.475092C>G
• NC_000006.11:g.129674377C>G
• NC_000006.11:g.129674377C>G
• NM_000426.3:c.4592C>G

This HGVS expression did not pass validation

Protein change:

P1531R

Links:

dbSNP: rs760292213

NCBI 1000 Genomes Browser:

rs760292213

Molecular consequence:

• NM_000426.4:c.4592C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079823.2:c.4592C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1