ClinVar

NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=)

Genes:

ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
LOC125146421:Sharpr-MPRA regulatory region 15590 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 16150604 (on Assembly GRCh38)
• Chr16: 16244461 (on Assembly GRCh37)

Preferred name:

NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=)

HGVS:

• NC_000016.10:g.16150604G>A
• NG_007558.3:g.78014C>T
• NM_001171.6:c.4377C>TMANE SELECT
• NM_001351800.1:c.4035C>T
• NP_001162.4:p.Arg1459=
• NP_001162.5:p.Arg1459=
• NP_001338729.1:p.Arg1345=
• LRG_1115t1:c.4377C>T
• LRG_1115:g.78014C>T
• LRG_1115p1:p.Arg1459=
• NC_000016.9:g.16244461G>A
• NG_007558.2:g.77868C>T
• NM_001171.5:c.4377C>T
• NR_147784.1:n.4039C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs63750763

NCBI 1000 Genomes Browser:

rs63750763

Molecular consequence:

• NR_147784.1:n.4039C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001171.6:c.4377C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351800.1:c.4035C>T - synonymous variant - [Sequence Ontology: SO:0001819]