ClinVar

NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser)

Gene:

LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 112109472 (on Assembly GRCh38)
• Chr6: 112430675 (on Assembly GRCh37)

Preferred name:

NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser)

HGVS:

• NC_000006.12:g.112109472C>T
• NG_008209.1:g.150154G>A
• NM_001105206.3:c.5437G>AMANE SELECT
• NM_001105207.3:c.5416G>A
• NM_002290.5:c.5416G>A
• NP_001098676.2:p.Gly1813Ser
• NP_001098677.2:p.Gly1806Ser
• NP_002281.3:p.Gly1806Ser
• LRG_433t2:c.5416G>A
• LRG_433:g.150154G>A
• NC_000006.11:g.112430675C>T
• NM_001105206.1:c.5437G>A
• NM_002290.3:c.5416G>A
• NM_002290.4:c.5416G>A

This HGVS expression did not pass validation

Protein change:

G1806S

Links:

dbSNP: rs142048329

NCBI 1000 Genomes Browser:

rs142048329

Molecular consequence:

• NM_001105206.3:c.5437G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105207.3:c.5416G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002290.5:c.5416G>A - missense variant - [Sequence Ontology: SO:0001583]