ClinVar

NM_001171.6(ABCC6):c.2946G>A (p.Thr982=)

Gene:

ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 16169695 (on Assembly GRCh38)
• Chr16: 16263552 (on Assembly GRCh37)

Preferred name:

NM_001171.6(ABCC6):c.2946G>A (p.Thr982=)

HGVS:

• NC_000016.10:g.16169695C>T
• NG_007558.3:g.58923G>A
• NM_001171.6:c.2946G>AMANE SELECT
• NM_001351800.1:c.2604G>A
• NP_001162.4:p.Thr982=
• NP_001162.5:p.Thr982=
• NP_001338729.1:p.Thr868=
• LRG_1115t1:c.2946G>A
• LRG_1115:g.58923G>A
• LRG_1115p1:p.Thr982=
• NC_000016.9:g.16263552C>T
• NC_000016.9:g.16263552C>T
• NG_007558.2:g.58777G>A
• NM_001171.5:c.2946G>A
• NR_147784.1:n.2808G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs138410013

NCBI 1000 Genomes Browser:

rs138410013

Molecular consequence:

• NR_147784.1:n.2808G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001171.6:c.2946G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351800.1:c.2604G>A - synonymous variant - [Sequence Ontology: SO:0001819]