ClinVar

NM_000228.3(LAMB3):c.831T>C (p.Asp277=)

Gene:

LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.2

Genomic location:

• Chr1: 209630727 (on Assembly GRCh38)
• Chr1: 209804072 (on Assembly GRCh37)

Preferred name:

NM_000228.3(LAMB3):c.831T>C (p.Asp277=)

HGVS:

• NC_000001.11:g.209630727A>G
• NG_007116.1:g.26749T>C
• NM_000228.3:c.831T>CMANE SELECT
• NM_001017402.2:c.831T>C
• NM_001127641.1:c.831T>C
• NP_000219.2:p.Asp277=
• NP_001017402.1:p.Asp277=
• NP_001121113.1:p.Asp277=
• NC_000001.10:g.209804072A>G
• NC_000001.10:g.209804072A>G
• NM_000228.2:c.831T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1571818664

NCBI 1000 Genomes Browser:

rs1571818664

Molecular consequence:

• NM_000228.3:c.831T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001017402.2:c.831T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127641.1:c.831T>C - synonymous variant - [Sequence Ontology: SO:0001819]