ClinVar

NM_005359.6(SMAD4):c.115delinsAA (p.Ala39fs)

Gene:

SMAD4:SMAD family member 4 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

18q21.2

Genomic location:

• Chr18: 51047161 (on Assembly GRCh38)
• Chr18: 48573531 (on Assembly GRCh37)

Preferred name:

NM_005359.6(SMAD4):c.115delinsAA (p.Ala39fs)

HGVS:

• NC_000018.10:g.51047161delinsAA
• NG_013013.2:g.84122delinsAA
• NM_005359.6:c.115delinsAAMANE SELECT
• NP_005350.1:p.Ala39fs
• LRG_318:g.84122delinsAA
• NC_000018.9:g.48573531delGinsAA
• NC_000018.9:g.48573531delinsAA

This HGVS expression did not pass validation

Protein change:

A39fs

Links:

dbSNP: rs1555685014

NCBI 1000 Genomes Browser:

rs1555685014

Molecular consequence:

• NM_005359.6:c.115delinsAA - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1