ClinVar

NM_001317778.2(SFTPC):c.201+14G>A

Genes:

BMP1:bone morphogenetic protein 1 [Gene - OMIM - HGNC]
SFTPC:surfactant protein C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

• Chr8: 22162746 (on Assembly GRCh38)
• Chr8: 22020259 (on Assembly GRCh37)

Preferred name:

NM_001317778.2(SFTPC):c.201+14G>A

HGVS:

• NC_000008.11:g.22162746G>A
• NG_016968.1:g.6076G>A
• NG_029659.1:g.2607G>A
• NM_001172357.2:c.201+14G>A
• NM_001172410.2:c.201+14G>A
• NM_001317778.2:c.201+14G>AMANE SELECT
• NM_001317779.2:c.43-334G>A
• NM_001317780.2:c.201+14G>A
• NM_003018.4:c.201+14G>A
• NC_000008.10:g.22020259G>A
• NM_001172357.1:c.201+14G>A
• NM_003018.3:c.201+14G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs8192327

NCBI 1000 Genomes Browser:

rs8192327

Molecular consequence:

• NM_001172357.2:c.201+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001172410.2:c.201+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317778.2:c.201+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317779.2:c.43-334G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317780.2:c.201+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003018.4:c.201+14G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

13