ClinVar

NM_001105206.3(LAMA4):c.27G>A (p.Ser9=)

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: 112254124 (on Assembly GRCh38)
• Chr6: 112575326 (on Assembly GRCh37)

Preferred name:

NM_001105206.3(LAMA4):c.27G>A (p.Ser9=)

HGVS:

• NC_000006.12:g.112254124C>T
• NG_008209.1:g.5503G>A
• NM_001105206.3:c.27G>AMANE SELECT
• NM_001105207.3:c.27G>A
• NM_001105208.3:c.27G>A
• NM_001105209.3:c.27G>A
• NM_002290.5:c.27G>A
• NP_001098676.2:p.Ser9=
• NP_001098677.2:p.Ser9=
• NP_001098678.1:p.Ser9=
• NP_001098678.1:p.Ser9=
• NP_001098679.1:p.Ser9=
• NP_002281.2:p.Ser9=
• NP_002281.3:p.Ser9=
• LRG_433t1:c.27G>A
• LRG_433t2:c.27G>A
• LRG_433:g.5503G>A
• LRG_433p1:p.Ser9=
• LRG_433p2:p.Ser9=
• NC_000006.11:g.112575326C>T
• NM_001105208.1:c.27G>A
• NM_002290.3:c.27G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001105206.3:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001105207.3:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001105208.3:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001105209.3:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002290.5:c.27G>A - synonymous variant - [Sequence Ontology: SO:0001819]