ClinVar

NM_003612.5(SEMA7A):c.1944C>T (p.Ala648=)

Gene:

SEMA7A:semaphorin 7A (JohnMiltonHagen blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74410681 (on Assembly GRCh38)
• Chr15: 74703022 (on Assembly GRCh37)

Preferred name:

NM_003612.5(SEMA7A):c.1944C>T (p.Ala648=)

HGVS:

• NC_000015.10:g.74410681G>A
• NG_011733.1:g.28278C>T
• NM_001146029.3:c.1902C>T
• NM_001146030.3:c.1449C>T
• NM_003612.5:c.1944C>TMANE SELECT
• NP_001139501.1:p.Ala634=
• NP_001139502.1:p.Ala483=
• NP_003603.1:p.Ala648=
• NP_003603.1:p.Ala648=
• LRG_818t1:c.1944C>T
• LRG_818:g.28278C>T
• LRG_818p1:p.Ala648=
• NC_000015.9:g.74703022G>A
• NM_003612.3:c.1944C>T
• NM_003612.4:c.1944C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001146029.3:c.1902C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001146030.3:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003612.5:c.1944C>T - synonymous variant - [Sequence Ontology: SO:0001819]