ClinVar

NM_019594.4(LRRC8A):c.315G>A (p.Gln105=)

Gene:

LRRC8A:leucine rich repeat containing 8 VRAC subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128907479 (on Assembly GRCh38)
• Chr9: 131669758 (on Assembly GRCh37)

Preferred name:

NM_019594.4(LRRC8A):c.315G>A (p.Gln105=)

HGVS:

• NC_000009.12:g.128907479G>A
• NG_009630.1:g.30368G>A
• NM_001127244.2:c.315G>A
• NM_001127245.2:c.315G>A
• NM_019594.4:c.315G>AMANE SELECT
• NP_001120716.1:p.Gln105=
• NP_001120717.1:p.Gln105=
• NP_062540.2:p.Gln105=
• NP_062540.2:p.Gln105=
• LRG_80t1:c.315G>A
• LRG_80:g.30368G>A
• LRG_80p1:p.Gln105=
• NC_000009.11:g.131669758G>A
• NM_019594.3:c.315G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001127244.2:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127245.2:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019594.4:c.315G>A - synonymous variant - [Sequence Ontology: SO:0001819]