ClinVar

NM_152403.4(EGFLAM):c.2371G>A (p.Ala791Thr)

Gene:

EGFLAM:EGF like, fibronectin type III and laminin G domains [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.1

Genomic location:

• Chr5: 38438362 (on Assembly GRCh38)
• Chr5: 38438464 (on Assembly GRCh37)

Preferred name:

NM_152403.4(EGFLAM):c.2371G>A (p.Ala791Thr)

HGVS:

• NC_000005.10:g.38438362G>A
• NM_001205301.2:c.2371G>A
• NM_152403.4:c.2371G>AMANE SELECT
• NM_182798.3:c.1669G>A
• NP_001192230.1:p.Ala791Thr
• NP_689616.2:p.Ala791Thr
• NP_877950.1:p.Ala557Thr
• NC_000005.9:g.38438464G>A
• NM_001205301.1:c.2371G>A

This HGVS expression did not pass validation

Protein change:

A557T

Molecular consequence:

• NM_001205301.2:c.2371G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152403.4:c.2371G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_182798.3:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]