ClinVar

NM_003982.4(SLC7A7):c.30C>T (p.Ala10=)

Genes:

LOC130055324:ATAC-STARR-seq lymphoblastoid silent region 5590 [Gene]
SLC7A7:solute carrier family 7 member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 22813369 (on Assembly GRCh38)
• Chr14: 23282578 (on Assembly GRCh37)

Preferred name:

NM_003982.4(SLC7A7):c.30C>T (p.Ala10=)

HGVS:

• NC_000014.9:g.22813369G>A
• NG_012851.2:g.21452C>T
• NG_189744.1:g.187G>A
• NG_189745.1:g.107G>A
• NM_001126105.3:c.30C>T
• NM_001126106.4:c.30C>T
• NM_003982.4:c.30C>TMANE SELECT
• NP_001119577.1:p.Ala10=
• NP_001119577.1:p.Ala10=
• NP_001119578.1:p.Ala10=
• NP_001119578.1:p.Ala10=
• NP_003973.3:p.Ala10=
• LRG_695t1:c.30C>T
• LRG_695t2:c.30C>T
• LRG_695t3:c.30C>T
• LRG_695:g.21452C>T
• LRG_695p1:p.Ala10=
• LRG_695p2:p.Ala10=
• LRG_695p3:p.Ala10=
• NC_000014.8:g.23282578G>A
• NM_001126105.2:c.30C>T
• NM_001126106.2:c.30C>T
• NR_040448.2:n.188C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001126105.3:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126106.4:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003982.4:c.30C>T - synonymous variant - [Sequence Ontology: SO:0001819]