ClinVar

NM_002291.2(LAMB1):c.2457A>T (p.Lys819Asn)

Gene:

LAMB1:laminin, beta 1 [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.1

Genomic location:

• Chr7: 107959692 (on Assembly GRCh38)
• Chr7: 107600137 (on Assembly GRCh37)
• Chr7: 107387373 (on Assembly NCBI36)

Preferred name:

NM_002291.2(LAMB1):c.2457A>T (p.Lys819Asn)

HGVS:

• NC_000007.14:g.107959692T>A
• NG_023255.1:g.48668A>T
• NM_002291.2:c.2457A>T
• NP_002282.2:p.Lys819Asn
• NC_000007.12:g.107387373T>A
• NC_000007.13:g.107600137T>A
• NM_002291.1:c.2457A>T

This HGVS expression did not pass validation

Protein change:

K819N

Links:

dbSNP: rs267601229

NCBI 1000 Genomes Browser:

rs267601229

Molecular consequence:

• NM_002291.2:c.2457A>T - missense variant - [Sequence Ontology: SO:0001583]