ClinVar

NM_001193300.2(SEMA4A):c.-254-12C>T

Gene:

SEMA4A:semaphorin 4A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156153519 (on Assembly GRCh38)
• Chr1: 156123310 (on Assembly GRCh37)

Preferred name:

NM_001193300.2(SEMA4A):c.-254-12C>T

HGVS:

• NC_000001.11:g.156153519C>T
• NG_027683.1:g.8576C>T
• NM_001193300.2:c.-254-12C>T
• NM_001193301.2:c.-29-1031C>T
• NM_001370568.1:c.-158-2895C>T
• NM_001370569.1:c.-385-2895C>T
• NM_001370571.1:c.-787-12C>T
• NC_000001.10:g.156123310C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs75927380

NCBI 1000 Genomes Browser:

rs75927380

Molecular consequence:

• NM_001193300.2:c.-254-12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193301.2:c.-29-1031C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370568.1:c.-158-2895C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370569.1:c.-385-2895C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370571.1:c.-787-12C>T - intron variant - [Sequence Ontology: SO:0001627]