ClinVar

NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 112148205 (on Assembly GRCh38)
• Chr6: 112469407 (on Assembly GRCh37)

Preferred name:

NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu)

HGVS:

• NC_000006.12:g.112148205A>G
• NG_008209.1:g.111422T>C
• NM_001105206.3:c.2305T>CMANE SELECT
• NM_001105207.3:c.2284T>C
• NM_002290.5:c.2284T>C
• NP_001098676.2:p.Phe769Leu
• NP_001098677.2:p.Phe762Leu
• NP_002281.3:p.Phe762Leu
• LRG_433t2:c.2284T>C
• LRG_433:g.111422T>C
• NC_000006.11:g.112469407A>G
• NM_001105206.2:c.2305T>C
• NM_002290.3:c.2284T>C
• NM_002290.4:c.2284T>C

This HGVS expression did not pass validation

Protein change:

F762L

Links:

dbSNP: rs1554334959

NCBI 1000 Genomes Browser:

rs1554334959

Molecular consequence:

• NM_001105206.3:c.2305T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001105207.3:c.2284T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002290.5:c.2284T>C - missense variant - [Sequence Ontology: SO:0001583]