ClinVar

NM_005902.4(SMAD3):c.401-6G>A

Gene:

SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.33

Genomic location:

• Chr15: 67165247 (on Assembly GRCh38)
• Chr15: 67457585 (on Assembly GRCh37)

Preferred name:

NM_005902.4(SMAD3):c.401-6G>A

HGVS:

• NC_000015.10:g.67165247G>A
• NG_011990.1:g.104391G>A
• NM_001145102.2:c.86-6G>A
• NM_001145103.2:c.269-6G>A
• NM_005902.4:c.401-6G>AMANE SELECT
• NC_000015.9:g.67457585G>A
• NC_000015.9:g.67457585G>A
• NM_005902.3:c.401-6G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs745672741

NCBI 1000 Genomes Browser:

rs745672741

Molecular consequence:

• NM_001145102.2:c.86-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145103.2:c.269-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005902.4:c.401-6G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1