ClinVar

NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)

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: 112254129 (on Assembly GRCh38)
• Chr6: 112575331 (on Assembly GRCh37)

Preferred name:

NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)

HGVS:

• NC_000006.12:g.112254129G>A
• NG_008209.1:g.5498C>T
• NM_001105206.3:c.22C>TMANE SELECT
• NM_001105207.3:c.22C>T
• NM_001105208.3:c.22C>T
• NM_001105209.3:c.22C>T
• NM_002290.5:c.22C>T
• NP_001098676.2:p.Arg8Cys
• NP_001098677.2:p.Arg8Cys
• NP_001098678.1:p.Arg8Cys
• NP_001098678.1:p.Arg8Cys
• NP_001098679.1:p.Arg8Cys
• NP_002281.2:p.Arg8Cys
• NP_002281.3:p.Arg8Cys
• LRG_433t1:c.22C>T
• LRG_433t2:c.22C>T
• LRG_433:g.5498C>T
• LRG_433p1:p.Arg8Cys
• LRG_433p2:p.Arg8Cys
• NC_000006.11:g.112575331G>A
• NM_001105208.1:c.22C>T
• NM_002290.3:c.22C>T

This HGVS expression did not pass validation

Protein change:

R8C

Molecular consequence:

• NM_001105206.3:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105207.3:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105208.3:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105209.3:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002290.5:c.22C>T - missense variant - [Sequence Ontology: SO:0001583]