ClinVar

NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val)

Genes:

LAMA4-AS1:LAMA4 antisense RNA 1 [Gene - HGNC]
LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 112254092 (on Assembly GRCh38)
• Chr6: 112575294 (on Assembly GRCh37)

Preferred name:

NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val)

HGVS:

• NC_000006.12:g.112254092G>A
• NG_008209.1:g.5535C>T
• NM_001105206.3:c.59C>TMANE SELECT
• NM_001105207.3:c.59C>T
• NM_001105208.3:c.59C>T
• NM_001105209.3:c.59C>T
• NM_002290.5:c.59C>T
• NP_001098676.2:p.Ala20Val
• NP_001098677.2:p.Ala20Val
• NP_001098678.1:p.Ala20Val
• NP_001098679.1:p.Ala20Val
• NP_002281.3:p.Ala20Val
• LRG_433t2:c.59C>T
• LRG_433:g.5535C>T
• NC_000006.11:g.112575294G>A
• NM_002290.3:c.59C>T
• NM_002290.4:c.59C>T

This HGVS expression did not pass validation

Protein change:

A20V

Links:

dbSNP: rs1060500981

NCBI 1000 Genomes Browser:

rs1060500981

Molecular consequence:

• NM_001105206.3:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105207.3:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105208.3:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105209.3:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002290.5:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]