ClinVar

NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 16169793 (on Assembly GRCh38)
• Chr16: 16263650 (on Assembly GRCh37)

Preferred name:

NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)

HGVS:

• NC_000016.10:g.16169793C>T
• NG_007558.3:g.58825G>A
• NM_001171.6:c.2848G>AMANE SELECT
• NM_001351800.1:c.2506G>A
• NP_001162.4:p.Ala950Thr
• NP_001162.5:p.Ala950Thr
• NP_001338729.1:p.Ala836Thr
• LRG_1115t1:c.2848G>A
• LRG_1115:g.58825G>A
• LRG_1115p1:p.Ala950Thr
• NC_000016.9:g.16263650C>T
• NG_007558.2:g.58679G>A
• NM_001171.5:c.2848G>A
• NR_147784.1:n.2710G>A

This HGVS expression did not pass validation

Protein change:

A836T

Links:

dbSNP: rs72657689

NCBI 1000 Genomes Browser:

rs72657689

Molecular consequence:

• NM_001171.6:c.2848G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351800.1:c.2506G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147784.1:n.2710G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]