ClinVar

NM_001271696.3(ABCB7):c.312C>T (p.Leu104=)

Gene:

ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.3

Genomic location:

• ChrX: 75112907 (on Assembly GRCh38)
• ChrX: 74332742 (on Assembly GRCh37)

Preferred name:

NM_001271696.3(ABCB7):c.312C>T (p.Leu104=)

Other names:

p.L105L:CTC>CTT

HGVS:

• NC_000023.11:g.75112907G>A
• NG_007980.3:g.48377C>T
• NM_001271696.3:c.312C>TMANE SELECT
• NM_001271697.3:c.312C>T
• NM_001271698.3:c.234C>T
• NM_001271699.3:c.315C>T
• NM_004299.6:c.315C>T
• NP_001258625.1:p.Leu104=
• NP_001258626.1:p.Leu104=
• NP_001258627.1:p.Leu78=
• NP_001258628.1:p.Leu105=
• NP_004290.2:p.Leu105=
• LRG_1162t1:c.315C>T
• LRG_1162t2:c.312C>T
• LRG_1162:g.48377C>T
• LRG_1162p1:p.Leu105=
• LRG_1162p2:p.Leu104=
• NC_000023.10:g.74332742G>A
• NG_007980.2:g.48826C>T
• NM_004299.3:c.315C>T
• NM_004299.4:c.315C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs140031135

NCBI 1000 Genomes Browser:

rs140031135

Molecular consequence:

• NM_001271696.3:c.312C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271697.3:c.312C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271698.3:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271699.3:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004299.6:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]